Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver

Deciphering the impact of genetic variation on gene regulation is fundamental to understanding common, complex human diseases. In this study, we obtained genome-wide RNA-Seq and ChIP-Seq (for H3K4me3 and H3K27ac histone modifications) data in the human liver. We mapped quantitative trait loci (QTLs) of gene expression levels and histone modification states. We integrated our findings with summary statistics of genome-wide association studies (GWAS) and identified candidate genes, gene regulatory regions, and variants in GWAS loci. RNA-Seq data were obtained from 49 (Penn Cohort 1) + 96 (Penn Cohort 2) individuals. ChIP-Seq data were obtained from 9 and 18 individuals (Penn Cohort 1) for H3K4me3 and H3K27ac marks, respectively.