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. 2020 Feb 29;48(6):2866–2879. doi: 10.1093/nar/gkaa123

Figure 1.

Figure 1.

Variation in TF binding affinity at a distal CRM. (A) Chromosomal interactions (green arcs) of a distal CRM on chromosome 6 (left) with two downstream genes in the LCL GM12878 detected by PCHi-C (49,61). HindIII restriction fragments containing the CRM (left) and baited promoters (two fragments on the right) are shown in orange. (B) Top: the ChIP-seq peaks from ENCODE (4) detected at this CRM (dark green) and used to define its boundaries (light blue). Bottom: the positions of 1000 Genomes Project SNPs within the CRM (red). (C) CRM haplotypes detected in 1000 Genomes Project (left) and changes in the affinity for the bound TFs at them with respect to the reference haplotype estimated using the biophysical model (39). (D) The MEF2A motif instance underlying the highest change in the affinity of this TF at the CRM. Top: motif logo; bottom: the reference and alternative haplotypes for this instance.