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Chunk #21 — Results — Informativeness for Disease

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Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.
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The overlap between primary peaks defined for each condition and disease loci reported in the GWAS catalog (www.genome.gov/gwastudies/) was subsequently assessed. Overall, 467 primary peaks overlapped with a GWAS locus, 248 of which were only observed in a stimulated state (table S6). To ascertain whether specific traits were enriched, we curated GWAS traits for membership of one or more disease categories on an organ-specific and systems approach. Observed cis-eQTL were found to be most significantly overrepresented in traits related to bacterial infection (naïve, 2-hour LPS), renal diseases (all except 2-hour LPS), and inflammation and immunity (all subsets) (Fig. 5C). Correspondingly, we observed underrepresentation in cancer, cardiovascular, and genetic traits.