Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLs.

However, of those that overlapped, there was a highly significant enrichment for effect direction concordance (i.e., increased binding with increased accessibility; OR = 18.0, P -value < 2.2 × 10 −16 ), suggesting replication across these distinct studies.

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After these corrections, the average reference allele frequency at all heterozygous sites was 0.5, and 50.02% of nominally significant ( P < 0.05) allele-specific variants favored the reference allele ( Fig. 1 B).

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