Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_00607 |
| Species: | Homo sapiens |
| Position : | chr1:155937201-155938359 |
| Year: | 2021 |
| Title: | Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 33478249 |
| Tissue: | heart left ventricle |
| Tissue Ontology ID: | UBERON:0002084 |
| Cell Source: | HL-1 mouse atrial cardiomyocyte cell line |
| CVCL ID: | CVCL_0303 |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay |
| High Throughput Method: | Promoter Capture Hi-C; H3K27ac ChIP-seq; ATAC-seq; H3K4me3 ChIP-seq; CTCF ChIP-seq; p300 ChIP-seq; cardiac TF ChIP-seq |
| Low Throughput Method: | Dual-luciferase reporter assay of LMNA-C1-1 in iPSC-CMs and HL-1 cells |
| Target gene : | LMNA |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00463 | chr1:155936009-155937220 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
| E_00464 | chr1:155937201-155938359 | left cardiac ventricle | ventricular cardiomyocyte | cardiomyopathy |
| E_00606 | chr1:155937201-155938359 | heart left ventricle | cardiac muscle cell | NA |