Extended Data Fig. 2: Replication testing of meQTLs within and across ancestries. | Nature Genetics

Extended Data Fig. 2: Replication testing of meQTLs within and across ancestries.

From: Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

Extended Data Fig. 2

a: Ancestry-specific replication of SNP-CpG pairs identified by genome-wide association. Effect size: change in methylation (0-1 scale) per allele copy of the SNP. Axes set to [-0.5,0.5]. b: Ancestry-specific replication, by pair proximity and MAF. Bars: no. of pairs identified in discovery in given category. Blue: replicated; yellow: not replicated. c: Cross-ancestry replication, by pair proximity and MAF. Top: discovery in EU, replication in SA; bottom: discovery in SA, replication in EU. Bars: no. of pairs identified in discovery in given category. Blue: replicated; yellow: not replicated. d: Cross-platform: replication in KORA F4 (N<=1731) of published MeDIP-seq meQTLs, by significance threshold. Blue lines: no. of replicated results (of 328); histograms: no. of replicated results over 100 randomly selected matched datasets. P-values: one-sided, no adjustment for multiple testing. See Methods for test description. EU: European; SA: South Asian; MAF: Minor allele frequency.

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