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Fig. 5 | Genome Biology

Fig. 5

From: The landscape of hervRNAs transcribed from human endogenous retroviruses across human body sites

Fig. 5

Genetic regulatory effect on hervRNAs. a Proportion of eHERVs (y-axis) as a function of the sample size for each body site (x-axis). See Fig. 2a for the legend of body site-related colors. b Functional annotation of cis-ervQTLs. Left: cis-ervQTL enrichment in functional annotations, shown as the mean ± SD across body sites. Right: proportion of variants across body sites, shown as the mean ± SD. UTR, untranslated region. c Top-ranked body sites on the basis of odds ratios of complex disease associations among cis-ervQTLs (FDR < 0.05). d GWAS colocalization between depression GWAS SNPs and cis-ervQTLs of HERV_00003253 (left: brain caudate, right: brain putamen), generated by LocusCompareR [33]. rs7339288 is the common lead variant with high LD. The boxplots indicate the expression of HERV_00003253 in different genotypes (from left to right: TT, TG, GG). The center line indicates the median, the limits are the IQR, the whiskers represent 1.5× the IQR, and individual black dots represent outliers

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