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Chunk #34 — Figure 1

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A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
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SNPs tagging tCNVs are likely to be eQTLs.(A) SNPs tagging tCNVs (r2≥0.80) are enriched for cis-acting eQTLs (eQTLs within 4 mb of target transcript). The distribution of the number of cis-acting eQTLs (at p<10−4) in 1,000 draws (each of same count as the number of tCNVs) of frequency-matched variants is shown in the bar graphs, with the actual number of cis-acting eQTLs observed in the tCNVs from the Wellcome Trust study shown as a solid circle. (B) SNPs tagging tCNVs are more likely to be eQTLs that predict the transcript levels of 10 or more genes than frequency-matched variants.