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Chunk #30 — RESULTS — Using cis-eQTL signals to interpret GWAS hits

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Genetic variability in the regulation of gene expression in ten regions of the human brain.
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matched cis-eQTL signals. A substantial percentage of brain-related GWAS-eQTL signals acted at a distance, including many cases where the GWAS-signal eQTL signal set (GWAS-eQTL plus all markers with r2 >0.8) resided in a different gene or even a different associated region as defined by recombination hotspots (Table 1). Of the 149 implicated cis-eQTL signals, 61 (1616.7%) lay entirely outside of the associated region of their target gene, reinforcing our results for cis-eQTL signals in general (Fig. 6 and Supplementary Table 3). These findings highlight the value of eQTL information in guiding the functional follow-up of GWAS hits.