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C.W. Thorball et al.
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Figure 3. Novel transcription factor binding site and long-range interactions. (A) Canonical motifs of BATF and JUND with the underlying genomic reference sequence and the nucleotide change caused by rs7919208. (B) Promoter capture Hi-C analysis in the GM12878 cell line of the region with the predicted causal variant and CXCL12. Variants and their level of association in the meta-analysis are marked in the inner grey circle. Genome-wide significant variants are colored green. Purple lines indicate significant interactions between promoter and other genomic regions. (C) Topologically associating domains (TAD) in the GM12878 cell line in the region of CXCL12. The yellow and blue boxes indicate the called TAD from the Hi-C contact map above. The plot is centered on rs7919208. DHS: DNase I hypersensitive sites.
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haematologica | 2021; 106(8)