Figure 4 : Using the Registry of cCREs to study transcriptional regulation

Figure 4 | Using the Registry of cCREs to study transcriptional regulation.

a, Pipeline for annotating and prioritizing genes and variants associated with traits. b, Circle-barplots denoting the enrichment of variants associated with red blood cell (RBC) traits in cCREs with high H3K27ac signals in specific cell and tissue types. Length of line denotes the log2 fold enrichment over control variants and size of the terminal circle indicates statistical significance of enrichment (calculated by VESPA pipeline, two-sided z-test based on the standard normal distribution of control variants). Color of line denotes tissue/organ of origin of biosample. A representative set of biosamples is shown with one cell line and one tissue sample for each non-blood organ/tissue. c, Table depicting genes linked with RBC cCREs (green shade) via different methods: RNAPII ChIA-PET in red, CTCF ChIA-PET in blue, Intact Hi-C in green, CRISPIRi-FlowFISH in purple, closest gene in dark gray and within 5kb (but not closest) in light gray. c, Heatmap depicting the expression level of genes linked with RBC cCREs across the same biosamples as b. Stars denote top-ranked candidates.