This catalog of eQTLs can be used to generate in silico hypotheses for biomedical follow-up using peripheral blood as a proxy tissue. Using the NHGRI GWAS catalog,1 after stringent filtering (P < 1×10−8), there were significant results for 3,415 SNPs, 498 traits, and 4,167 SNP-trait pairs from 927 papers. The greatest numbers of SNP-trait/disease associations were for height (248), HDL cholesterol (92), Crohn’s disease (155), Type 2 diabetes (98), and ulcerative colitis (81). The extended MHC region (chr6:25–34 mb, 0.3% of the genome) is the second most gene-dense region of the genome and contained the greatest number of SNPs implicated by GWAS (6.8%). Of 4,167 SNP-trait pairs implicated by GWAS, 534 (12.8%) were part of a local eQTL (either directly or via a proxy SNP with r2 > 0.5).
