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Chunk #17 — Results — One third of trait-associated variants have distal effects

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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression.
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These results suggest that some of the trans-eQTLs identified in blood are present in individual cell types, although it remains challenging to prioritize individual effects. The trans-eQTL effect sizes were generally small (median r=0.033; Supplementary Figure 8a, e, i; Supplementary Note). Considering the limited sample sizes of available bulk and scRNA-seq trans-eQTL datasets (N=388–1,480; N=2,905 for methylation QTL data, all <10% of discovery N), the statistical power to replicate these effects was low (Supplementary Figure 8g–h), limiting our ability to reliably distinguish cell-type-composition effects from intracellular effects. Therefore, we used all trans-eQTLs in the interpretive analyses (see also Supplementary Note).