Circulating chromatin reveal regulatory genetic effects of disease-associated variants

An atlas of genetic determinants of circulating chromatin mapped from large-scale cell-free chromatin profiles in cancer patients and healthy controls. Cell-free chromatin QTL (cfcQTL) mapping leveraged H3K27ac profiles (marking active enhancers and promoters) and H3K4me3 profiles (marking active promoters) assessed using cell-free chromatin immunoprecipitation sequencing (cfChIP-seq). Profiling of histone modifications in plasma-derived chromatin enabled genome-wide discovery of chromatin quantitative trait loci (cQTL) across diverse tissue contexts. This liquid biopsy approach provides scalable access to map genetic effects on regulatory element activity in non-hematologic and developmentally restricted tissues that are typically inaccessible through conventional sampling, facilitating studies of regulatory genetic architecture underlying complex traits and disease risk. Briefly, this repo contains the following data: cfcPeaks: Chromatin peaks with significant cfcQTLs cfcQTLs: Cell-free chromatin quantitative trait loci cfCWAS: Cell-free chromatin wide association studies combined-statsfile: Combined summary statistics for cfcQTLs and cfCWAS for both K4me3 and K27ac READMEs are provided for all data in the repo.