About Enhancer
| Enhancer ID: | E_00769 |
| Species: | Homo sapiens |
| Position : | chr10:112731665-112732664   |
| Year: | 2026 |
| Title: | Engineered Heart Tissues Facilitate Noncoding Variant Studies in Cardiomyopathy. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | cardiomyopathy |
| PMID: | 42366973 |
| MONDO: | MONDO:0004994 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | human iPSC-derived cardiomyocytes |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer reporter assay; noncoding variant functional assay; Enhancer activity assay; Endogenous enhancer perturbation; Disease-variant functional analysis |
| High Throughput Method: | single-cell RNA-seq; cell-type-resolved ATAC-seq; cardiomyopathy GWAS fine-mapping; Hi-C/chromatin-contact integration; RNA-seq; GWAS |
| Low Throughput Method: | Dual-luciferase reporter assay of the article-described 1-kb genomic fragment centered on rs10885378; rs10885378-T showed enhancer activity whereas the C allele was not significantly different from the gene-desert control; Start/End denote the reporter fragment rather than an endogenous enhancer boundary; CRISPR-Cas9 endogenous deletion/editing; Allele-specific reporter assay; Reporter assay |
About Target Gene
| Target gene : | TCF7L2 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg38)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00748 | chr10:112731665-112732664 | heart | cardiac muscle cell | cardiomyopathy |
Expression of Target Genes for the Enhancer