For enhancer-associated H3K4me1 peaks, we found 58 studies (Fig. 9a, Extended Data 11a) with significant enrichments in at least one tissue at 2% FDR (Hypergeometric P<10−3.9). Upon manual curation, the enriched cell types were consistent with our current understanding of disease-relevant tissues for the vast majority of cases. For example, diverse immune traits were enriched in immune cell enhancers, including rheumatoid arthritis, celiac disease, type 1 diabetes, systemic lupus erythematosus, chronic lymphocytic leukemia, allergy, multiple sclerosis, and Graves’ disease75-81. A large number of metabolic trait variants are enriched in liver enhancer marks, including LDL, HDL, total cholesterol, lipid metabolism phenotypes, and metabolite levels82-83. Fasting glucose was most enriched for pancreatic islet enhancer marks, and insulin-like growth factors in placenta, consistent with their endocrine regulatory roles84-85. Several cardiac traits were enriched in heart tissue enhancers, including the PR heart repolarization interval, blood pressure, and aortic root size. Interestingly, inflammatory bowel disease and ulcerative colitis variants show enrichment in both immune and gastrointestinal enhancer marks, suggesting dysregulation of both organs may underlie disease predisposition. Both attention deficit hyperactivity disorder and adiponectin levels
