Detail view for rs6682554

Link to dbSNP entry

Link to Ensembl Variation entry

Sequence facts

chrpos (hg19)chrpos (hg38)ReferenceAlternate1000 Genomes Phase 1 FrequenciesSequence constraintdbSNP functional annotation
AFRAMRASNEURby GERPby SiPhy
chr111986621chr111926564TC0.640.50.590.54NoNonone

Closest annotated gene
SourceDistanceDirectionID/LinkCommon nameDescription
GENCODE5'135ENSG00000116685.11KIAA2013KIAA2013 [Source:HGNC Symbol;Acc:28513]
RefSeq5'135NM_138346KIAA2013KIAA2013 [Source:HGNC Symbol;Acc:28513]

Regulatory chromatin states from DNAse and histone ChIP-Seq (Roadmap Epigenomics Consortium, 2015)

(Black = missing data)

Epigenome ID (EID)GroupMnemonicDescriptionChromatin states
(Core 15-state model)		Chromatin states
(25-state model
using 12 imputed marks)		H3K4me1H3K4me3H3K27acH3K9acDNase
E001ESCESC.I3ES-I3 Cells1_TssA2_PromUH3K4me3_ProH3K9ac_Pro
E002ESCESC.WA7ES-WA7 Cells16_EnhW1H3K9ac_Pro
E003ESCESC.H1H1 Cells1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E004ES-derivESDR.H1.BMP4.MESOH1 BMP4 Derived Mesendoderm Cultured Cells2_PromUH3K4me3_ProH3K9ac_ProDNase
E005ES-derivESDR.H1.BMP4.TROPH1 BMP4 Derived Trophoblast Cultured Cells7_Enh2_PromUH3K4me3_ProH3K27ac_EnhDNase
E006ES-derivESDR.H1.MSCH1 Derived Mesenchymal Stem Cells2_PromUH3K4me1_EnhH3K4me3_ProH3K9ac_ProDNase
E007ES-derivESDR.H1.NEUR.PROGH1 Derived Neuronal Progenitor Cultured Cells7_Enh2_PromUH3K4me3_ProH3K9ac_ProDNase
E008ESCESC.H9H9 Cells2_TssAFlnk2_PromUH3K4me3_ProH3K27ac_EnhDNase
E009ES-derivESDR.H9.NEUR.PROGH9 Derived Neuronal Progenitor Cultured Cells2_TssAFlnk2_PromUH3K4me3_Pro
E010ES-derivESDR.H9.NEURH9 Derived Neuron Cultured Cells2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_Pro
E011ES-derivESDR.CD184.ENDOhESC Derived CD184+ Endoderm Cultured Cells16_EnhW1H3K4me3_Pro
E012ES-derivESDR.CD56.ECTOhESC Derived CD56+ Ectoderm Cultured Cells1_TssA2_PromUH3K4me3_Pro
E013ES-derivESDR.CD56.MESOhESC Derived CD56+ Mesoderm Cultured Cells7_Enh2_PromUH3K4me3_ProH3K27ac_Enh
E014ESCESC.HUES48HUES48 Cells2_TssAFlnk2_PromUH3K4me3_Pro
E015ESCESC.HUES6HUES6 Cells2_TssAFlnk2_PromUH3K4me3_ProH3K9ac_Pro
E016ESCESC.HUES64HUES64 Cells1_TssA2_PromUH3K4me3_ProH3K9ac_Pro
E017IMR90LNG.IMR90IMR90 fetal lung fibroblasts Cell Line2_TssAFlnk2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E018iPSCIPSC.15biPS-15b Cells1_TssA2_PromUH3K4me3_Pro
E019iPSCIPSC.18iPS-18 Cells2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K9ac_Pro
E020iPSCIPSC.20BiPS-20b Cells1_TssA2_PromUH3K4me3_ProH3K9ac_Pro
E021iPSCIPSC.DF.6.9iPS DF 6.9 Cells2_PromUH3K4me3_ProDNase
E022iPSCIPSC.DF.19.11iPS DF 19.11 Cells1_TssA2_PromUH3K4me1_EnhH3K4me3_ProDNase
E023MesenchFAT.MSC.DR.ADIPMesenchymal Stem Cell Derived Adipocyte Cultured Cells2_TssAFlnk2_PromUH3K4me3_ProH3K9ac_Pro
E024ESCESC.4STARES-UCSF4 Cells7_Enh2_PromUH3K4me1_EnhH3K4me3_Pro
E025MesenchFAT.ADIP.DR.MSCAdipose Derived Mesenchymal Stem Cell Cultured Cells1_TssA2_PromUH3K4me3_ProH3K9ac_Pro
E026MesenchSTRM.MRW.MSCBone Marrow Derived Cultured Mesenchymal Stem Cells2_TssAFlnk2_PromUH3K4me3_ProH3K9ac_Pro
E027EpithelialBRST.MYOBreast Myoepithelial Primary Cells1_TssA2_PromUH3K4me3_Pro
E028EpithelialBRST.HMEC.35Breast variant Human Mammary Epithelial Cells (vHMEC)2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProDNase
E029HSC & B-cellBLD.CD14.PCPrimary monocytes from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E030HSC & B-cellBLD.CD15.PCPrimary neutrophils from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_Pro
E031HSC & B-cellBLD.CD19.CPCPrimary B cells from cord blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_Pro
E032HSC & B-cellBLD.CD19.PPCPrimary B cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E033Blood & T-cellBLD.CD3.CPCPrimary T cells from cord blood1_TssA2_PromUH3K4me3_ProDNase
E034Blood & T-cellBLD.CD3.PPCPrimary T cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E035HSC & B-cellBLD.CD34.PCPrimary hematopoietic stem cells2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_Pro
E036HSC & B-cellBLD.CD34.CCPrimary hematopoietic stem cells short term culture2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_Pro
E037Blood & T-cellBLD.CD4.MPCPrimary T helper memory cells from peripheral blood 27_Enh2_PromUH3K4me3_ProH3K27ac_Enh
E038Blood & T-cellBLD.CD4.NPCPrimary T helper naive cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E039Blood & T-cellBLD.CD4.CD25M.CD45RA.NPCPrimary T helper naive cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E040Blood & T-cellBLD.CD4.CD25M.CD45RO.MPCPrimary T helper memory cells from peripheral blood 17_Enh2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E041Blood & T-cellBLD.CD4.CD25M.IL17M.PL.TPCPrimary T helper cells PMA-I stimulated1_TssA2_PromUH3K4me3_ProH3K27ac_Enh
E042Blood & T-cellBLD.CD4.CD25M.IL17P.PL.TPCPrimary T helper 17 cells PMA-I stimulated2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E043Blood & T-cellBLD.CD4.CD25M.TPCPrimary T helper cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_Pro
E044Blood & T-cellBLD.CD4.CD25.CD127M.TREGPCPrimary T regulatory cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E045Blood & T-cellBLD.CD4.CD25I.CD127.TMEMPCPrimary T cells effector/memory enriched from peripheral blood1_TssA2_PromUH3K4me3_ProH3K27ac_Enh
E046HSC & B-cellBLD.CD56.PCPrimary Natural Killer cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E047Blood & T-cellBLD.CD8.NPCPrimary T CD8+ naive cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E048Blood & T-cellBLD.CD8.MPCPrimary T CD8+ memory cells from peripheral blood7_Enh2_PromUH3K4me3_ProH3K27ac_Enh
E049MesenchSTRM.CHON.MRW.DR.MSCMesenchymal Stem Cell Derived Chondrocyte Cultured Cells2_TssAFlnk2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E050HSC & B-cellBLD.MOB.CD34.PC.FPrimary hematopoietic stem cells G-CSF-mobilized Female2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E051HSC & B-cellBLD.MOB.CD34.PC.MPrimary hematopoietic stem cells G-CSF-mobilized Male2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProDNase
E052MyosatMUS.SATMuscle Satellite Cultured Cells2_TssAFlnk2_PromUH3K4me3_ProH3K9ac_Pro
E053NeurosphBRN.CRTX.DR.NRSPHRCortex derived primary cultured neurospheres2_TssAFlnk2_PromUH3K4me3_Pro
E054NeurosphBRN.GANGEM.DR.NRSPHRGanglion Eminence derived primary cultured neurospheres2_TssAFlnk2_PromUH3K4me3_Pro
E055EpithelialSKIN.PEN.FRSK.FIB.01Foreskin Fibroblast Primary Cells skin011_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E056EpithelialSKIN.PEN.FRSK.FIB.02Foreskin Fibroblast Primary Cells skin022_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E057EpithelialSKIN.PEN.FRSK.KER.02Foreskin Keratinocyte Primary Cells skin021_TssA2_PromUH3K4me1_EnhH3K4me3_ProDNase
E058EpithelialSKIN.PEN.FRSK.KER.03Foreskin Keratinocyte Primary Cells skin032_TssAFlnk2_PromUH3K4me3_ProH3K27ac_Enh
E059EpithelialSKIN.PEN.FRSK.MEL.01Foreskin Melanocyte Primary Cells skin011_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E061EpithelialSKIN.PEN.FRSK.MEL.03Foreskin Melanocyte Primary Cells skin032_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E062Blood & T-cellBLD.PER.MONUC.PCPrimary mononuclear cells from peripheral blood2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E063AdiposeFAT.ADIP.NUCAdipose Nuclei2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K9ac_Pro
E065HeartVAS.AORAorta22_PromPH3K4me3_Pro
E066OtherLIV.ADLTLiver2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E067BrainBRN.ANG.GYRBrain Angular Gyrus1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E068BrainBRN.ANT.CAUDBrain Anterior Caudate1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E069BrainBRN.CING.GYRBrain Cingulate Gyrus1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E070BrainBRN.GRM.MTRXBrain Germinal Matrix1_TssA2_PromUH3K4me3_Pro
E071BrainBRN.HIPP.MIDBrain Hippocampus Middle2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E072BrainBRN.INF.TMPBrain Inferior Temporal Lobe2_TssAFlnk2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E073BrainBRN.DL.PRFRNTL.CRTXBrain_Dorsolateral_Prefrontal_Cortex1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E074BrainBRN.SUB.NIGBrain Substantia Nigra1_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E075DigestiveGI.CLN.MUCColonic Mucosa1_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E076Sm. MuscleGI.CLN.SM.MUSColon Smooth Muscle1_TssA2_PromUH3K4me3_ProH3K27ac_Enh
E077DigestiveGI.DUO.MUCDuodenum Mucosa1_TssA2_PromUH3K4me3_ProH3K9ac_Pro
E078Sm. MuscleGI.DUO.SM.MUSDuodenum Smooth Muscle1_TssA2_PromUH3K4me3_Pro
E079DigestiveGI.ESOEsophagus1_TssA2_PromUH3K4me3_ProH3K27ac_Enh
E080OtherADRL.GLND.FETFetal Adrenal Gland2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E081BrainBRN.FET.MFetal Brain Male7_Enh2_PromUH3K4me1_EnhDNase
E082BrainBRN.FET.FFetal Brain Female1_TssA2_PromUH3K4me3_ProDNase
E083HeartHRT.FETFetal Heart7_Enh2_PromUH3K4me1_EnhH3K9ac_ProDNase
E084DigestiveGI.L.INT.FETFetal Intestine Large2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E085DigestiveGI.S.INT.FETFetal Intestine Small2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E086OtherKID.FETFetal Kidney2_PromUH3K4me3_ProH3K9ac_ProDNase
E087OtherPANC.ISLTPancreatic Islets1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E088OtherLNG.FETFetal Lung2_TssAFlnk2_PromUH3K4me3_ProH3K9ac_ProDNase
E089MuscleMUS.TRNK.FETFetal Muscle Trunk2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProDNase
E090MuscleMUS.LEG.FETFetal Muscle Leg2_TssAFlnk2_PromUH3K4me3_ProH3K27ac_EnhDNase
E091OtherPLCNT.FETPlacenta2_TssAFlnk2_PromUH3K4me3_ProH3K27ac_EnhDNase
E092DigestiveGI.STMC.FETFetal Stomach1_TssA2_PromUH3K4me3_ProH3K27ac_EnhDNase
E093ThymusTHYM.FETFetal Thymus2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E094DigestiveGI.STMC.GASTGastric2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E095HeartHRT.VENT.LLeft Ventricle1_TssA2_PromUH3K4me3_ProH3K27ac_Enh
E096OtherLNGLung2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E097OtherOVRYOvary1_TssA2_PromUH3K4me3_ProH3K27ac_EnhDNase
E098OtherPANCPancreas1_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhDNase
E099OtherPLCNT.AMNPlacenta Amnion2_TssAFlnk2_PromUH3K4me3_Pro
E100MuscleMUS.PSOASPsoas Muscle1_TssA2_PromUH3K4me3_ProH3K27ac_EnhDNase
E101DigestiveGI.RECT.MUC.29Rectal Mucosa Donor 291_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E102DigestiveGI.RECT.MUC.31Rectal Mucosa Donor 311_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E103Sm. MuscleGI.RECT.SM.MUSRectal Smooth Muscle1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E104HeartHRT.ATR.RRight Atrium1_TssA2_PromUH3K4me3_ProH3K27ac_Enh
E105HeartHRT.VNT.RRight Ventricle1_TssA2_PromUH3K4me3_ProH3K27ac_Enh
E106DigestiveGI.CLN.SIGSigmoid Colon2_PromUH3K4me3_ProH3K27ac_Enh
E107MuscleMUS.SKLT.MSkeletal Muscle Male1_TssA2_PromUH3K4me3_ProH3K9ac_Pro
E108MuscleMUS.SKLT.FSkeletal Muscle Female2_TssAFlnk3_PromD1H3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E109DigestiveGI.S.INTSmall Intestine1_TssA2_PromUH3K4me3_ProH3K27ac_EnhDNase
E110DigestiveGI.STMC.MUCStomach Mucosa1_TssA2_PromUH3K4me3_ProH3K9ac_Pro
E111Sm. MuscleGI.STMC.MUSStomach Smooth Muscle1_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E112ThymusTHYMThymus1_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E113OtherSPLNSpleen1_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_Enh
E114ENCODE2012LNG.A549.ETOH002.CNCRA549 EtOH 0.02pct Lung Carcinoma Cell Line1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E115ENCODE2012BLD.DND41.CNCRDnd41 TCell Leukemia Cell Line2_TssAFlnk2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_Pro
E116ENCODE2012BLD.GM12878GM12878 Lymphoblastoid Cells1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E117ENCODE2012CRVX.HELAS3.CNCRHeLa-S3 Cervical Carcinoma Cell Line2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E118ENCODE2012LIV.HEPG2.CNCRHepG2 Hepatocellular Carcinoma Cell Line2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E119ENCODE2012BRST.HMECHMEC Mammary Epithelial Primary Cells7_Enh2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E120ENCODE2012MUS.HSMMHSMM Skeletal Muscle Myoblasts Cells1_TssA2_PromUH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E121ENCODE2012MUS.HSMMTHSMM cell derived Skeletal Muscle Myotubes Cells2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K9ac_ProDNase
E122ENCODE2012VAS.HUVECHUVEC Umbilical Vein Endothelial Primary Cells2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E123ENCODE2012BLD.K562.CNCRK562 Leukemia Cells2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E124ENCODE2012BLD.CD14.MONOMonocytes-CD14+ RO01746 Primary Cells2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E125ENCODE2012BRN.NHANH-A Astrocytes Primary Cells2_TssAFlnk2_PromUH3K4me3_ProH3K9ac_ProDNase
E126ENCODE2012SKIN.NHDFADNHDF-Ad Adult Dermal Fibroblast Primary Cells1_TssA2_PromUH3K4me3_ProH3K9ac_ProDNase
E127ENCODE2012SKIN.NHEKNHEK-Epidermal Keratinocyte Primary Cells1_TssA2_PromUH3K4me1_EnhH3K4me3_ProH3K27ac_EnhH3K9ac_ProDNase
E128ENCODE2012LNG.NHLFNHLF Lung Fibroblast Primary Cells1_TssA2_PromUH3K4me3_ProH3K9ac_ProDNase
E129ENCODE2012BONE.OSTEOOsteoblast Primary Cells2_TssAFlnk2_PromUH3K4me1_EnhH3K4me3_Pro

Proteins bound in ChIP-Seq experiments (ENCODE Project Consortium, 2011)

Cell IDProtein
GM12878POL2
GM12891POL2
GM12891POL24H8
GM12892POL2
GM12892POL2
GM12892POL2
GM18505POL2
GM18951POL2
GM19099POL2
GM19193POL2
H1-hESCSP1
HCT-116POL2
HCT-116POL24H8
HeLa-S3POL2
HeLa-S3TBP
HepG2ELF1
HepG2HDAC2
HepG2HEY1
HepG2POL2
HepG2POL2
K562ATF3
K562CCNT2
K562EGR1
K562ELF1
K562HEY1
K562HMGN3
K562IRF1
K562MXI1
K562POL2
K562POL2
K562POL2
K562POL2
K562POL24H8
K562TBP
K562ZBTB7A
MCF-7POL2
MCF10A-Er-SrcPOL2
MCF10A-Er-SrcPOL2
NB4MAX
NB4POL2
PBDEPOL2
ProgFibPOL2
RajiPOL2

GRASP QTL hits

Traitp-valuePMID
Gene expression of MFN2 in blood4.7E-1521829388
Gene expression of PLOD1 in blood1.7E-1721829388
Serum ratio of (deoxycholate)/(glycodeoxycholate)9.90E-0521886157

Hits from selected eQTL studies

Study IDPaper TitlePMIDTissueCorrelated genep-value
GTEx2015_v6The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans25954001Esophagus_MucosaMFN21.82431587777933e-07
GTEx2015_v6The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans25954001TestisMFN28.20127872754266e-06
GTEx2015_v6The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans25954001Whole_BloodKIAA20131.16692822125008e-06
Westra2013Systematic identification of trans eQTLs as putative drivers of known disease associations24013639Whole_BloodKIAA2013|NPPA2.846643702248058E-5
Westra2013Systematic identification of trans eQTLs as putative drivers of known disease associations24013639Whole_BloodMFN21.7844863280815918E-45
Westra2013Systematic identification of trans eQTLs as putative drivers of known disease associations24013639Whole_BloodMTHFR|C1orf1670.0011403285356798
Westra2013Systematic identification of trans eQTLs as putative drivers of known disease associations24013639Whole_BloodPLOD11.494662874366078E-70

Regulatory motifs altered

Position Weight Matrix ID
(Library from Kheradpour and Kellis, 2013)		StrandRefAltMatch on:
Ref: GGGACAAAAGCTGCCGGGGGCGGGACCACTCGTTCCCAGGCCGGAAGAGTGAAGTCCAG
Alt: GGGACAAAAGCTGCCGGGGGCGGGACCACCCGTTCCCAGGCCGGAAGAGTGAAGTCCAG
Zic_1-7.611.2
                            GACCMMCYV
Zic_3-6.811.6
                            GRBCMCCCD