Fig. 3: Enrichment analysis of transcription factor binding sites of transcription factors with roles in telomere length regulation highlights a PAX5 binding site near PSMB4.

A Enrichment of 95% credible set SNPs across all transcription factors with ChIP-seq data available from ENCODE using a one-sided binomial test (Methods). Red points represent transcription factors with known roles in regulating telomere length maintainence (TLM) genes and blue points represent transcription factors with known roles in the alternative telomere lengthening (ALT) pathway. There were 320 transcription factors plotted (28 red, 8 blue, 284 gray). There were 18 transcription factors that fall at the (0,0) coordinate that are not plotted for the sake of clarity; one (XRCC3) had known roles in ALT. A complete list of transcription factors is provided in Supplementary Data 9 and source data are provided as a Source Data file. B ChIP-seq data for the indicated DNA binding factor (red) or histone mark (blue) was generated by ENCODE and downloaded as bigwig files from the UCSC genome browser. The gene structure and genomic coordinates are depicted below the ChIP-seq data.