HaploReg is a tool for exploring annotations of the noncoding genome at variants on haplotype blocks, such as candidate regulatory SNPs at disease-associated loci. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with chromatin state and protein binding annotation from the Roadmap Epigenomics and ENCODE projects, sequence conservation across mammals, the effect of SNPs on regulatory motifs, and the effect of SNPs on expression from eQTL studies. HaploReg is designed for researchers developing mechanistic hypotheses of the impact of non-coding variants on clinical phenotypes and normal variation.
Update 2015.11.05: Version 4.1 GWAS and eQTL have been updated; a simpler pruning strategy is applied when combining GWAS; and links out to other NHGRI/EBI GWAS hits and GRASP QTL hits are provided.
Update 2015.09.15: Version 4.0 now includes many recent eQTL results including the GTEx pilot, four different options for defining enhancers using Roadmap Epigenomics data, and a complete set of source files for download and local analysis. Older versions available: v3, v2, v1.
Update 2023.02.28: The interface for HaploReg is no longer operational. Source data is available here and the documentation page is available here.