Figure 5.

Functional annotation of SNP rs13447455. Functional annotation was performed using data from the Encyclopedia of DNA Elements (ENCODE) and NIH Roadmap Epigenomics projects. From top to bottom, epigenetic signals overlapping rs13447455 included DNase clusters in HMEC, T47D and MCF7 cells; histone modifications in HMEC, MCF10A and MCF7 cell lines; overlap between rs13447455 and transcription factor binding sites in MCF10A and MCF7 cells; chromatin state segmentation by Hidden Markov Model (ChromHMM) in breast myoepithelial and HMEC cells, where red represents an active promoter region, yellow a poised enhancer and green a transcribed region respectively (the detailed color scheme of chromatin states is described in the UCSC browser). Predicted enhancer-promoter determined interactions in HMEC cells, as defined by the integrated method for predicting enhancer targets (IM-PET) are shown.