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Fig. 4 | Genome Biology

Fig. 4

From: Systemic interindividual epigenetic variation in humans is associated with transposable elements and under strong genetic control

Fig. 4

CoRSIV mQTL SNVs are enriched for GWAS associations. A Within each of 8 disease/phenotype categories, the histogram shows the null distribution obtained by permutation testing for overlap of GWAS SNVs with SNVs randomly sampled within 1Mb of each CoRSIV. The red diamond shows the actual number of overlaps between CoRSIV mQTL SNVs and GWAS SNVs. Numbers of GWAS SNVs considered in each category are anthropometric: 8106, cancer: 3163, cardiovascular: 4816, hematological: 7461, immune: 5263, metabolic: 10,121, neurological: 14,741, and various: 14,573. B Statistical significance (Bonferroni-adjusted p-value) vs. fold enrichments for the analysis in A. Strong and statistically significant enrichments were found for all outcomes except cancer. C Statistical significance (Bonferroni-adjusted p-value) vs. fold enrichments for 8 metabolic traits and 4 cancer outcomes from the LDSC analysis confirms that the vicinity of CoRSIVs is enriched for heritability of metabolic traits

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