Link to Ensembl Variation entry
Sequence facts
| chr | pos (hg19) | chr | pos (hg38) | Reference | Alternate | 1000 Genomes Phase 1 Frequencies | Sequence constraint | dbSNP functional annotation | ||||
| AFR | AMR | ASN | EUR | by GERP | by SiPhy | |||||||
| chr19 | 13885484 | chr19 | 13774670 | A | G | 0.43 | 0.28 | 0.41 | 0.25 | Yes | Yes | missense |
| Closest annotated gene | |||||
| Source | Distance | Direction | ID/Link | Common name | Description |
| GENCODE | NA | Within gene | ENSG00000104979.3 | C19orf53 | chromosome 19 open reading frame 53 [Source:HGNC Symbol;Acc:24991] |
| RefSeq | NA | Within gene | NM_014047 | C19orf53 | chromosome 19 open reading frame 53 [Source:HGNC Symbol;Acc:24991] |
Regulatory chromatin states from DNAse and histone ChIP-Seq (Roadmap Epigenomics Consortium, 2015)
| Epigenome ID (EID) | Group | Mnemonic | Description | Chromatin states (Core 15-state model) | Chromatin states (25-state model using 12 imputed marks) | H3K4me1 | H3K4me3 | H3K27ac | H3K9ac | DNase |
| E001 | ESC | ESC.I3 | ES-I3 Cells | H3K4me3_Pro | H3K9ac_Pro | |||||
| E002 | ESC | ESC.WA7 | ES-WA7 Cells | H3K4me3_Pro | H3K9ac_Pro | |||||
| E003 | ESC | ESC.H1 | H1 Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E004 | ES-deriv | ESDR.H1.BMP4.MESO | H1 BMP4 Derived Mesendoderm Cultured Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E005 | ES-deriv | ESDR.H1.BMP4.TROP | H1 BMP4 Derived Trophoblast Cultured Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E006 | ES-deriv | ESDR.H1.MSC | H1 Derived Mesenchymal Stem Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E007 | ES-deriv | ESDR.H1.NEUR.PROG | H1 Derived Neuronal Progenitor Cultured Cells | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | ||
| E008 | ESC | ESC.H9 | H9 Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E009 | ES-deriv | ESDR.H9.NEUR.PROG | H9 Derived Neuronal Progenitor Cultured Cells | H3K4me1_Enh | H3K4me3_Pro | |||||
| E010 | ES-deriv | ESDR.H9.NEUR | H9 Derived Neuron Cultured Cells | H3K4me1_Enh | H3K4me3_Pro | |||||
| E011 | ES-deriv | ESDR.CD184.ENDO | hESC Derived CD184+ Endoderm Cultured Cells | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E012 | ES-deriv | ESDR.CD56.ECTO | hESC Derived CD56+ Ectoderm Cultured Cells | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E013 | ES-deriv | ESDR.CD56.MESO | hESC Derived CD56+ Mesoderm Cultured Cells | H3K4me3_Pro | H3K27ac_Enh | |||||
| E014 | ESC | ESC.HUES48 | HUES48 Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E015 | ESC | ESC.HUES6 | HUES6 Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E016 | ESC | ESC.HUES64 | HUES64 Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E017 | IMR90 | LNG.IMR90 | IMR90 fetal lung fibroblasts Cell Line | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E018 | iPSC | IPSC.15b | iPS-15b Cells | H3K4me3_Pro | H3K9ac_Pro | |||||
| E019 | iPSC | IPSC.18 | iPS-18 Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E020 | iPSC | IPSC.20B | iPS-20b Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E021 | iPSC | IPSC.DF.6.9 | iPS DF 6.9 Cells | H3K4me3_Pro | ||||||
| E022 | iPSC | IPSC.DF.19.11 | iPS DF 19.11 Cells | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E023 | Mesench | FAT.MSC.DR.ADIP | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | H3K4me1_Enh | H3K4me3_Pro | H3K9ac_Pro | ||||
| E024 | ESC | ESC.4STAR | ES-UCSF4 Cells | H3K4me1_Enh | H3K4me3_Pro | |||||
| E025 | Mesench | FAT.ADIP.DR.MSC | Adipose Derived Mesenchymal Stem Cell Cultured Cells | H3K4me3_Pro | H3K9ac_Pro | |||||
| E026 | Mesench | STRM.MRW.MSC | Bone Marrow Derived Cultured Mesenchymal Stem Cells | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E027 | Epithelial | BRST.MYO | Breast Myoepithelial Primary Cells | H3K4me3_Pro | H3K9ac_Pro | |||||
| E028 | Epithelial | BRST.HMEC.35 | Breast variant Human Mammary Epithelial Cells (vHMEC) | H3K4me1_Enh | H3K4me3_Pro | DNase | ||||
| E029 | HSC & B-cell | BLD.CD14.PC | Primary monocytes from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E030 | HSC & B-cell | BLD.CD15.PC | Primary neutrophils from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | |||||
| E031 | HSC & B-cell | BLD.CD19.CPC | Primary B cells from cord blood | H3K4me1_Enh | H3K4me3_Pro | |||||
| E032 | HSC & B-cell | BLD.CD19.PPC | Primary B cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E033 | Blood & T-cell | BLD.CD3.CPC | Primary T cells from cord blood | H3K4me1_Enh | H3K4me3_Pro | DNase | ||||
| E034 | Blood & T-cell | BLD.CD3.PPC | Primary T cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E035 | HSC & B-cell | BLD.CD34.PC | Primary hematopoietic stem cells | H3K4me1_Enh | H3K4me3_Pro | |||||
| E036 | HSC & B-cell | BLD.CD34.CC | Primary hematopoietic stem cells short term culture | H3K4me1_Enh | H3K4me3_Pro | |||||
| E037 | Blood & T-cell | BLD.CD4.MPC | Primary T helper memory cells from peripheral blood 2 | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E038 | Blood & T-cell | BLD.CD4.NPC | Primary T helper naive cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E039 | Blood & T-cell | BLD.CD4.CD25M.CD45RA.NPC | Primary T helper naive cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E040 | Blood & T-cell | BLD.CD4.CD25M.CD45RO.MPC | Primary T helper memory cells from peripheral blood 1 | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E041 | Blood & T-cell | BLD.CD4.CD25M.IL17M.PL.TPC | Primary T helper cells PMA-I stimulated | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E042 | Blood & T-cell | BLD.CD4.CD25M.IL17P.PL.TPC | Primary T helper 17 cells PMA-I stimulated | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E043 | Blood & T-cell | BLD.CD4.CD25M.TPC | Primary T helper cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E044 | Blood & T-cell | BLD.CD4.CD25.CD127M.TREGPC | Primary T regulatory cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E045 | Blood & T-cell | BLD.CD4.CD25I.CD127.TMEMPC | Primary T cells effector/memory enriched from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E046 | HSC & B-cell | BLD.CD56.PC | Primary Natural Killer cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E047 | Blood & T-cell | BLD.CD8.NPC | Primary T CD8+ naive cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E048 | Blood & T-cell | BLD.CD8.MPC | Primary T CD8+ memory cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E049 | Mesench | STRM.CHON.MRW.DR.MSC | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E050 | HSC & B-cell | BLD.MOB.CD34.PC.F | Primary hematopoietic stem cells G-CSF-mobilized Female | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E051 | HSC & B-cell | BLD.MOB.CD34.PC.M | Primary hematopoietic stem cells G-CSF-mobilized Male | H3K4me1_Enh | H3K4me3_Pro | DNase | ||||
| E052 | Myosat | MUS.SAT | Muscle Satellite Cultured Cells | H3K4me1_Enh | H3K4me3_Pro | H3K9ac_Pro | ||||
| E053 | Neurosph | BRN.CRTX.DR.NRSPHR | Cortex derived primary cultured neurospheres | H3K4me1_Enh | H3K4me3_Pro | |||||
| E054 | Neurosph | BRN.GANGEM.DR.NRSPHR | Ganglion Eminence derived primary cultured neurospheres | H3K4me1_Enh | H3K4me3_Pro | |||||
| E055 | Epithelial | SKIN.PEN.FRSK.FIB.01 | Foreskin Fibroblast Primary Cells skin01 | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E056 | Epithelial | SKIN.PEN.FRSK.FIB.02 | Foreskin Fibroblast Primary Cells skin02 | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E057 | Epithelial | SKIN.PEN.FRSK.KER.02 | Foreskin Keratinocyte Primary Cells skin02 | H3K4me1_Enh | H3K4me3_Pro | DNase | ||||
| E058 | Epithelial | SKIN.PEN.FRSK.KER.03 | Foreskin Keratinocyte Primary Cells skin03 | H3K4me3_Pro | H3K27ac_Enh | |||||
| E059 | Epithelial | SKIN.PEN.FRSK.MEL.01 | Foreskin Melanocyte Primary Cells skin01 | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E061 | Epithelial | SKIN.PEN.FRSK.MEL.03 | Foreskin Melanocyte Primary Cells skin03 | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E062 | Blood & T-cell | BLD.PER.MONUC.PC | Primary mononuclear cells from peripheral blood | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E063 | Adipose | FAT.ADIP.NUC | Adipose Nuclei | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E065 | Heart | VAS.AOR | Aorta | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E066 | Other | LIV.ADLT | Liver | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E067 | Brain | BRN.ANG.GYR | Brain Angular Gyrus | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E068 | Brain | BRN.ANT.CAUD | Brain Anterior Caudate | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E069 | Brain | BRN.CING.GYR | Brain Cingulate Gyrus | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E070 | Brain | BRN.GRM.MTRX | Brain Germinal Matrix | H3K4me1_Enh | H3K4me3_Pro | |||||
| E071 | Brain | BRN.HIPP.MID | Brain Hippocampus Middle | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E072 | Brain | BRN.INF.TMP | Brain Inferior Temporal Lobe | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E073 | Brain | BRN.DL.PRFRNTL.CRTX | Brain_Dorsolateral_Prefrontal_Cortex | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E074 | Brain | BRN.SUB.NIG | Brain Substantia Nigra | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E075 | Digestive | GI.CLN.MUC | Colonic Mucosa | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E076 | Sm. Muscle | GI.CLN.SM.MUS | Colon Smooth Muscle | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E077 | Digestive | GI.DUO.MUC | Duodenum Mucosa | H3K4me1_Enh | H3K4me3_Pro | H3K9ac_Pro | ||||
| E078 | Sm. Muscle | GI.DUO.SM.MUS | Duodenum Smooth Muscle | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E079 | Digestive | GI.ESO | Esophagus | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E080 | Other | ADRL.GLND.FET | Fetal Adrenal Gland | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E081 | Brain | BRN.FET.M | Fetal Brain Male | H3K4me1_Enh | H3K4me3_Pro | DNase | ||||
| E082 | Brain | BRN.FET.F | Fetal Brain Female | H3K4me1_Enh | H3K4me3_Pro | |||||
| E083 | Heart | HRT.FET | Fetal Heart | H3K4me1_Enh | H3K4me3_Pro | H3K9ac_Pro | DNase | |||
| E084 | Digestive | GI.L.INT.FET | Fetal Intestine Large | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E085 | Digestive | GI.S.INT.FET | Fetal Intestine Small | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E086 | Other | KID.FET | Fetal Kidney | H3K4me3_Pro | H3K9ac_Pro | DNase | ||||
| E087 | Other | PANC.ISLT | Pancreatic Islets | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E088 | Other | LNG.FET | Fetal Lung | H3K4me1_Enh | H3K4me3_Pro | H3K9ac_Pro | DNase | |||
| E089 | Muscle | MUS.TRNK.FET | Fetal Muscle Trunk | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E090 | Muscle | MUS.LEG.FET | Fetal Muscle Leg | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E091 | Other | PLCNT.FET | Placenta | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E092 | Digestive | GI.STMC.FET | Fetal Stomach | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E093 | Thymus | THYM.FET | Fetal Thymus | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E094 | Digestive | GI.STMC.GAST | Gastric | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E095 | Heart | HRT.VENT.L | Left Ventricle | H3K4me3_Pro | H3K27ac_Enh | |||||
| E096 | Other | LNG | Lung | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E097 | Other | OVRY | Ovary | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E098 | Other | PANC | Pancreas | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | DNase | |||
| E099 | Other | PLCNT.AMN | Placenta Amnion | H3K4me1_Enh | H3K4me3_Pro | |||||
| E100 | Muscle | MUS.PSOAS | Psoas Muscle | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E101 | Digestive | GI.RECT.MUC.29 | Rectal Mucosa Donor 29 | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E102 | Digestive | GI.RECT.MUC.31 | Rectal Mucosa Donor 31 | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E103 | Sm. Muscle | GI.RECT.SM.MUS | Rectal Smooth Muscle | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E104 | Heart | HRT.ATR.R | Right Atrium | H3K4me3_Pro | H3K27ac_Enh | |||||
| E105 | Heart | HRT.VNT.R | Right Ventricle | H3K4me3_Pro | H3K27ac_Enh | |||||
| E106 | Digestive | GI.CLN.SIG | Sigmoid Colon | H3K4me3_Pro | H3K27ac_Enh | |||||
| E107 | Muscle | MUS.SKLT.M | Skeletal Muscle Male | H3K4me3_Pro | H3K9ac_Pro | |||||
| E108 | Muscle | MUS.SKLT.F | Skeletal Muscle Female | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E109 | Digestive | GI.S.INT | Small Intestine | H3K4me3_Pro | H3K27ac_Enh | DNase | ||||
| E110 | Digestive | GI.STMC.MUC | Stomach Mucosa | H3K4me1_Enh | H3K4me3_Pro | H3K9ac_Pro | ||||
| E111 | Sm. Muscle | GI.STMC.MUS | Stomach Smooth Muscle | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E112 | Thymus | THYM | Thymus | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E113 | Other | SPLN | Spleen | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | ||||
| E114 | ENCODE2012 | LNG.A549.ETOH002.CNCR | A549 EtOH 0.02pct Lung Carcinoma Cell Line | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E115 | ENCODE2012 | BLD.DND41.CNCR | Dnd41 TCell Leukemia Cell Line | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E116 | ENCODE2012 | BLD.GM12878 | GM12878 Lymphoblastoid Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E117 | ENCODE2012 | CRVX.HELAS3.CNCR | HeLa-S3 Cervical Carcinoma Cell Line | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | ||
| E118 | ENCODE2012 | LIV.HEPG2.CNCR | HepG2 Hepatocellular Carcinoma Cell Line | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E119 | ENCODE2012 | BRST.HMEC | HMEC Mammary Epithelial Primary Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E120 | ENCODE2012 | MUS.HSMM | HSMM Skeletal Muscle Myoblasts Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E121 | ENCODE2012 | MUS.HSMMT | HSMM cell derived Skeletal Muscle Myotubes Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E122 | ENCODE2012 | VAS.HUVEC | HUVEC Umbilical Vein Endothelial Primary Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | ||||
| E123 | ENCODE2012 | BLD.K562.CNCR | K562 Leukemia Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E124 | ENCODE2012 | BLD.CD14.MONO | Monocytes-CD14+ RO01746 Primary Cells | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | |||
| E125 | ENCODE2012 | BRN.NHA | NH-A Astrocytes Primary Cells | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | ||
| E126 | ENCODE2012 | SKIN.NHDFAD | NHDF-Ad Adult Dermal Fibroblast Primary Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E127 | ENCODE2012 | SKIN.NHEK | NHEK-Epidermal Keratinocyte Primary Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E128 | ENCODE2012 | LNG.NHLF | NHLF Lung Fibroblast Primary Cells | H3K4me3_Pro | H3K27ac_Enh | H3K9ac_Pro | DNase | |||
| E129 | ENCODE2012 | BONE.OSTEO | Osteoblast Primary Cells | H3K4me1_Enh | H3K4me3_Pro | H3K27ac_Enh |
Proteins bound in ChIP-Seq experiments (ENCODE Project Consortium, 2011)
| Cell ID | Protein |
| GM12878 | EGR1 |
| GM12878 | POL24H8 |
| GM12891 | TAF1 |
| GM18951 | POL2 |
| H1-hESC | EGR1 |
| H1-hESC | EGR1 |
| H1-hESC | POL2 |
| H1-hESC | POL2 |
| HUVEC | CFOS |
| HeLa-S3 | POL2 |
| HeLa-S3 | POL2 |
| K562 | EGR1 |
| K562 | ETS1 |
| K562 | MAX |
| K562 | POL24H8 |
| K562 | POL2B |
| K562 | ZBTB7A |
| MCF10A-Er-Src | POL2 |
| PBDE | POL2 |
| T-REx-HEK293 | ZNF263 |
GRASP QTL hits
| Trait | p-value | PMID |
| Differential exon level expression of C19orf53 [probe 3822349] in brain cortex | 8.68E-07 | 19222302 |
| Differential exon level expression of C19orf53 [probe 3822349] in peripheral blood mononuclear cells | 1.32E-10 | 19222302 |
| Differential exon level expression of C19orf53 [probe 3822351] in peripheral blood mononuclear cells | 4.86E-10 | 19222302 |
| Gene expression of C19orf53 [probe 3822347] in peripheral blood mononuclear cells | 4.77E-05 | 19222302 |
| Gene expression of AC008686.8///C19orf53 in blood | 6.1E-08 | 21829388 |
| Gene expression of C19orf53 in blood | 1.2E-105 | 21829388 |
| Gene expression of C19orf53 (ENSG00000104979) in dendritic cells treated with Mycobacterium tuberculosis | 0.026140697 | 22233810 |
| Gene expression of C19orf53 in normal prepouch ileum | 1.96057E-12 | 23474282 |
Hits from selected eQTL studies
| Study ID | Paper Title | PMID | Tissue | Correlated gene | p-value |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Adipose_Subcutaneous | C19orf53 | 4.5330710301125e-08 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Adipose_Subcutaneous | CTB-5E10.3 | 6.57864177949049e-09 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Adrenal_Gland | CTB-5E10.3 | 2.15607336106747e-10 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Artery_Aorta | C19orf53 | 3.15046974228299e-14 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Artery_Aorta | CTB-5E10.3 | 2.97776432458482e-11 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Artery_Tibial | C19orf53 | 1.96806657127424e-07 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Artery_Tibial | CTB-5E10.3 | 6.0190615538248e-11 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Brain_Caudate_basal_ganglia | C19orf53 | 3.42291966755933e-08 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Brain_Caudate_basal_ganglia | CTB-5E10.3 | 9.38888321737403e-07 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Brain_Cortex | C19orf53 | 1.62302993787817e-08 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Brain_Frontal_Cortex_BA9 | C19orf53 | 1.72706599795037e-08 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Brain_Hippocampus | C19orf53 | 1.33136045159646e-07 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Brain_Nucleus_accumbens_basal_ganglia | C19orf53 | 1.82317244790703e-06 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Breast_Mammary_Tissue | CTB-5E10.3 | 1.09884187636348e-09 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Cells_Transformed_fibroblasts | C19orf53 | 1.18490975711883e-17 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Cells_Transformed_fibroblasts | CTB-5E10.3 | 5.15037197433257e-12 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Cells_Transformed_fibroblasts | MRI1 | 2.24528096653723e-06 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Colon_Sigmoid | CTB-5E10.3 | 8.40496202708332e-11 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Colon_Transverse | CTB-5E10.3 | 1.30707965791488e-08 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Esophagus_Gastroesophageal_Junction | CTB-5E10.3 | 2.94999866863519e-08 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Esophagus_Mucosa | CTB-5E10.3 | 2.49785030623628e-08 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Esophagus_Muscularis | C19orf53 | 1.73740305885874e-07 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Esophagus_Muscularis | CTB-5E10.3 | 1.39518936059972e-10 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Lung | C19orf53 | 6.32853940000886e-07 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Lung | CTB-5E10.3 | 2.89759229566222e-16 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Muscle_Skeletal | CTB-5E10.3 | 3.61075194121337e-13 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Muscle_Skeletal | MRI1 | 6.92627067797561e-07 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Nerve_Tibial | C19orf53 | 1.29197232692962e-11 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Nerve_Tibial | CTB-5E10.3 | 1.81468300742994e-09 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Pancreas | CTB-5E10.3 | 5.78151071820291e-06 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Skin_Not_Sun_Exposed_Suprapubic | CTB-5E10.3 | 4.92936620838221e-07 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Skin_Sun_Exposed_Lower_leg | C19orf53 | 2.25604292708469e-13 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Skin_Sun_Exposed_Lower_leg | CTB-5E10.3 | 3.80935756342974e-17 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Skin_Sun_Exposed_Lower_leg | MRI1 | 1.36279607678262e-06 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Spleen | CTB-5E10.3 | 7.93031994463191e-07 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Stomach | CTB-5E10.3 | 3.96300632947449e-13 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Testis | C19orf53 | 5.42204547446763e-06 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Testis | CTB-5E10.3 | 2.2223457582521e-06 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Thyroid | C19orf53 | 8.35730794451125e-08 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Thyroid | CTB-5E10.3 | 3.57986455994301e-11 |
| GTEx2015_v6 | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans | 25954001 | Whole_Blood | CTB-5E10.3 | 5.76454130712127e-14 |
| Lappalainen2013 | Transcriptome and genome sequencing uncovers functional variation in humans | 24037378 | Lymphoblastoid_EUR_exonlevel | ENSG00000037757.8_13882935_13885096 | 4.27469953589725e-08 |
| Lappalainen2013 | Transcriptome and genome sequencing uncovers functional variation in humans | 24037378 | Lymphoblastoid_EUR_exonlevel | ENSG00000104979.3_13885257_13885388 | 6.43469785867893e-11 |
| Lappalainen2013 | Transcriptome and genome sequencing uncovers functional variation in humans | 24037378 | Lymphoblastoid_EUR_exonlevel | ENSG00000104979.3_13885466_13885521 | 9.44091922312695e-09 |
| Lappalainen2013 | Transcriptome and genome sequencing uncovers functional variation in humans | 24037378 | Lymphoblastoid_EUR_exonlevel | ENSG00000104979.3_13888866_13889582 | 1.51413639012435e-11 |
| Lappalainen2013 | Transcriptome and genome sequencing uncovers functional variation in humans | 24037378 | Lymphoblastoid_EUR_genelevel | C19orf53 | 4.74232184646523e-11 |
| Westra2013 | Systematic identification of trans eQTLs as putative drivers of known disease associations | 24013639 | Whole_Blood | CCDC130 | 1.0259222990687241E-6 |
Regulatory motifs altered
| Position Weight Matrix ID (Library from Kheradpour and Kellis, 2013) | Strand | Ref | Alt | Match on:Ref: TCTTTCCCCAGGTCGTGTTATCGCTCCCAAGAAGGCGCGCGTCGTGCAGCAGCAAAAGC |
| CCNT2_disc1 | + | 11.5 | 10.4 | NBBBTTATCWSHNNNNHVCAS |
| E2F_known9 | + | 15.6 | 14.1 | VHDADGGCGCGCSHW |
| STAT_known13 | - | 8.8 | 9.9 | RRGAARBB |
| STAT_known4 | - | 6.6 | 11.9 | TKCCDGGAAR |