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Chunk #54 — ONLINE METHODS — Heritability enrichments of chromatin-based annotations

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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.
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Aggregating all results of the Roadmap and EN-TEx chromatin analyses, at least one tissue was significant at FDR<5% for 44 of the 48 traits (Figure S5 and Tables S5 and S7). Averaging across the most significant annotation for each of these 44 traits, the tissue-specific chromatin annotation spanned 3.3% of the genome and explained 43% of the SNP-heritability (Table S5). The sizes of the annotation ranged from 0.8% to 7.8%, and the estimates of enrichment varied from 3.5× to 33×, representing much more variability than for the top annotations in the multiple-tissue gene expression analysis. Because the annotations were much smaller, the estimates of proportion of heritability tended to be much noisier.