Systematic assessment of regulatory effects of human disease variants in pluripotent cells

By linking our regulatory map of rare and common QTL to comprehensive GWAS data, we identified high-confidence colocalization events for 4,336 individual GWAS loci, which includes physical traits such as height and coronary artery disease. In addition, we identify rare variant associations for metabolic rate and -eQTL linked to both cancer and height. Collectively, our data greatly expand the regulatory landscape in human pluripotent cells, and catalogues trait-associated variants that have potential developmental or transient contexts.