Extended Data Fig. 3: MDSs associated with gene expression.
From: The correlation between CpG methylation and gene expression is driven by sequence variants
Distance, x-axis, from MDS midpoints to the TSS locations of the associated mRNA transcript isoforms versus the effect size on expression, y-axis. MDS midpoints are represented as black dots, and the MDSs are represented as ranges that is, horizontal lines. (a) Distal associations that is, where the MDS does not contain the TSS of the associated mRNA. (b) Promoter associations that is, where the MDS contains the TSS of the associated mRNA, where the MDS is represented by a line (left to right) indicating the position relative to the TSS of the associated mRNA. (a) and (b) TSS is represented as the origin of the x-axis (x = 0), shown as a vertical dashed line, red. Note, we modify the sign of the distance such that negative distances reflect upstream positions of the MDS midpoint relative to the TSS of the associated mRNA. Hence, the upstream positions indicate that the MDS midpoint does not intersect with the direction of mRNA transcription. In contrast, downstream positions indicate that the MDS midpoint does intersect with the direction of mRNA transcription.
