We also demonstrate the usefulness of the resulting regulatory annotations for interpreting human genetic variation and disease. In an unbiased sampling across the GWAS catalog, we find that genetic variants associated with complex traits are highly enriched in epigenomic annotations of trait-relevant tissues, providing mechanistic insights on the likely relevant cell types underlying genome-wide significant loci. The GWAS enrichments in our analysis were strongest for enhancer-associated marks, consistent with their highly tissue-specific nature. However, promoter-associated and transcription-associated marks were also enriched, implicating several gene-regulatory levels as underlying genetic variants associated with complex traits. These results suggest that our datasets will be valuable in the study of human disease, as several companion papers explore in the context of autoimmune disorders94-95, Alzheimer's Disease90,96-97 and cancer98-99.
