We also observed HR loci to be significantly enriched for DNase I hypersensitive sites (DHSs; Fig. 3). We evaluated regions containing the five unreported novel HR loci and five independent secondary variants at previously reported HR loci (12) together with all 67 published HR-associated SNVs [21 loci reported from the original GWAS (12) plus 46 loci recently published from UK Biobank (17)]. Highest enrichment for DHSs in HR loci occurred within regions that are transcriptionally active in fetal heart tissue and fetal lung, as reported in the UK Biobank study. Moreover, for the first time we found significant enrichment for DHSs in human neuronal progenitor cells (derived from embryonic stem cells) and fetal muscle samples, with the inclusion of our novel loci.
