Fig. 3: Genomic region containing the significant DNAme marker near CTSZ identified by the epigenome-wide association study (EWAS).
A 50-kilobase region on either side of the top DNAme marker (cg04917472) are shown. Each circle represents a DNAme marker coloured by its correlation value with the top DNAme marker (only markers with significant [P < 0.05] Spearman’s rank correlation coefficients are coloured; red-positive, blue-negative). Epigenomic data in endothelial cells including pulmonary artery endothelial cells (HPAEC) and human umbilical vein-derived endothelial cells (HUVEC), lung and the right heart indicate areas likely to contain active regulatory regions and promoters. Markers include histone H3 lysine 4 monomethylation (H3K4Me1; often found in enhancers) and trimethylation (H3K4Me3; strongly observed in promoters) and H3 lysine 27 acetylation (H3K27Ac; often found in active regulatory regions). Auxiliary hidden Markov models, which summarise epigenomic data to predict the functional status of genomic regions in different tissues or cells, are shown (chromHMM). Red marks signal active transcription start sites. Annotation data were extracted from the UCSC website62,63. The UCSC Session URL is available in the Supplementary Materials section.
