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Chunk #19 — Results — Large effect QTLs are consistent across brain regions

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Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.
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or SNP-transcript pair was non-significant, using ternary plots (Figure 4). The majority of large effect and many moderate effect QTLs were shared across the four brain regions (Figure 4) when significant effects from a tissue are compared with corresponding (possible non-significant) effects from another tissue. Of interest, a subset of trans methQTLs (defined here as any SNP CpG pair not within 1MB of each other) was also shared between regions and had high R2 values. This suggests that, while methQTLs show cis enrichment, there are also a number of robust distal effects where SNP and CpG methylation show significant association.