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Fig. 6 | Genome Medicine

Fig. 6

From: An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

Fig. 6

A lung-specific TF-target gene regulatory network for asthma. The TF-target gene network was generated by mapping the significant SNPs with asthma from the PheWAS Catalog into the enhancer or promoter regions via three components: (1) genome-wide mapping of promoters and enhancers; (2) linking TFs to promoters and enhancers; and (3) linking enhancers and promoters to target genes as described in “Methods.” TFs are denoted by Vee and target genes with the significant SNPs are denoted by circles. The node color is coded based on the lung-specific gene expression quantified by z-scores using the RNA-seq data from GTEx. A larger z-score indicates a higher expression level in lung compared to other tissues. Green lines represent the enhancer-gene regulations and orange lines represent the promoter-gene regulations. Several TFs and targeted genes (CSF3, ZBTB38, NFKB1, HLA-DRB1, HLA-DPB1, and HLAnDRB5) described in main text were highlighted

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