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Chunk #3 — GWAS variants localize in cell- and developmental stage-selective regulatory DNA

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Systematic localization of common disease-associated variation in regulatory DNA.
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We observed selective localization within physiologically or pathogenically-relevant specific cell or tissue types, including affected tissues or known or posited effector cell types (Fig. 1C). For a given disorder, cell-selective localization within physiologically or pathogenically-relevant cell types was repeatedly observed for multiple independently-associated SNPs distributed widely around the genome (fig. S4). These results suggest a tissue-specific regulatory role for many common variants, as well as the potential for comprehensive regulatory DNA maps to illuminate associations within disease-relevant cell types.