Extended Data Fig. 4: Functional attributes of ASM-QTLs.
From: The correlation between CpG methylation and gene expression is driven by sequence variants
ASM-QTLs were more likely than expected by chance, to be found in high LD (r2 > 0.80) to A) sequence variants that influence the DNA binding affinity to transcription factors SPI1, CTCF and EBF1, and cohesin protein STAG1 and B) sequence variants located within regulatory sequences defined by ENCODE33, that is, candidate cis-regulatory elements (version 3). Note, sequence variants that influence ASBs were identified in Chen et al.42. The P-values shown, unadjusted for multiple comparison, were computed using our permutation-based method described under methods section „ASM-QTL in functional annotation maps‘.
