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. 2016 Apr 7;44(8):3750–3762. doi: 10.1093/nar/gkw219

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© The Author(s) 2016. Published by Oxford University Press on behalf of Nucleic Acids Research.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

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Figure 5. — TRs that are significant eQTLs and mQTLs preferentially co-localize with their associated target. After first dividing eQTL and mQTLs into those that were either nominally significant (P < 0.05 in either CEU or YRI, blue outline) or non-significant (P > 0.05 in both CEU and YRI, gray shading), we plotted the separation of (A) TR:TSS and (B) TR:CpG pairs for the two groups in 1 kb bins. The red line shows the frequency difference between the non-significant and significant distributions, with the significance of the enrichment determined through permutations (see ‘Materials and Methods’ section). For both eQTLs and mQTLs, significant associations are enriched for separations of <1 kb. These results mirror those from previous studies using SNPs, which have shown a strong enrichment for eQTLs occurring in close proximity to the TSS of the associated gene (43), and for mQTLs to colocalize with their associated CpG (44).