Heatmap from Scientific Research

Functional annotation of rs61776719 at the 1p34.3 locus identified rs67631072 (r2 = 1.0, D = 1.0) as the top annotated variant, which shows enhancer activity in open chromatin regions and is predicted by the ABC model to affect gene expression. Detailed figures of the annotations of the regions are shown in Extended Data Figs. 2 – 4. In all figure panels, gray blocks correspond to an annotation, and black blocks correspond to a strong annotation. ATAC denotes the presence of an ATAC-seq peak, CTCF denotes the presence of a CTCF peak from the ChIP–seq analysis and Akita denotes evidence of disruption of 3D chromatin structure. TF denotes that a transcription factor was predicted to bind.

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