Fine-mapping <i>cis</i>-regulatory variants in diverse human populations.

As expected, we found that overall caQTLs were strongly enriched for local eQTLs (TSS <10 kb from the caQTL); restricting the analysis to caQTLs with no effect on interactions reduced the magnitude of this enrichment, but it was still highly significant in both cases ( Figure 4C left; Fisher’s exact p<10 −300 for each enrichment), suggesting that changes in long-range interactions are not necessary for caQTLs to affect transcription of nearby genes. caQTLs were also enriched for distal eQTLs (p<10 −70 ), but this enrichment was entirely lost when restricting the analysis to caQTLs with no change in long-range interactions ( Figure 4C right; p=0.20).

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Among these, we observed a clear trend for increased sharing within continents: the mean fraction of shared caQTLs was 59.9% within Africans and 59.8% within Europeans, compared to 48.4% between these two groups ( Figure 2A ).

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