About Enhancer
| Enhancer ID: | E_00456 |
| Species: | Homo sapiens |
| Position : | chr14:23876121-23878188   |
| Year: | 2021 |
| Title: | Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | cardiomyopathy |
| PMID: | 33478249 |
| MONDO: | MONDO:0004994 |
| Tissue: | left cardiac ventricle |
| Tissue Ontology ID: | UBERON:0002084 |
| Cell Source: | human iPSC-derived cardiomyocytes |
| Cell Type: | ventricular cardiomyocyte |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay; Regulatory variant functional assay |
| High Throughput Method: | Promoter Capture Hi-C; H3K27ac ChIP-seq; ATAC-seq; H3K4me3 ChIP-seq; CTCF ChIP-seq; cardiac TF ChIP-seq; gnomAD variant filtering; GTEx eQTL analysis |
| Low Throughput Method: | Luciferase reporter assay in human iPSC-derived cardiomyocytes |
About Target Gene
| Target gene : | MYH6 |
About TF
| TF name : | NKX2-5 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| NKX2-5 | Physiological factors | reactome | 12 |
| NKX2-5 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| NKX2-5 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| NKX2-5 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
9 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00457 | chr14:23876121-23878188 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
| E_00604 | chr14:23876121-23878188 | heart left ventricle | cardiac muscle cell | NA |
| E_00605 | chr14:23876121-23878188 | heart left ventricle | cardiac muscle cell | NA |
| E_00477 | chr14:23876221-23877058 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
| E_00478 | chr14:23876221-23877058 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
| E_00479 | chr14:23876782-23877626 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
| E_00480 | chr14:23876782-23877626 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
| E_00481 | chr14:23877446-23878141 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
| E_00482 | chr14:23877446-23878141 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
Expression of Target Genes for the Enhancer