About Enhancer
| Enhancer ID: | E_00753 |
| Species: | Homo sapiens |
| Position : | chr3:14229951-14235950   |
| Year: | 2026 |
| Title: | Engineered Heart Tissues Facilitate Noncoding Variant Studies in Cardiomyopathy. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | dilated cardiomyopathy |
| PMID: | 42366973 |
| MONDO: | MONDO:0005021 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | primary human cardiac fibroblasts present in EHTs |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Haplotype-resolved enhancer reporter assay; endogenous CRISPR deletion assay; target-gene expression profiling; engineered heart tissue 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; bulk RNA-seq; RNA-seq; GWAS |
| Low Throughput Method: | Haplotype-resolved dual-luciferase reporter assay; synthetic haplotype mutagenesis; CRISPR/Cas9 approximately 6-kb endogenous enhancer deletion; PCR; Sanger sequencing; engineered heart tissue contractility assay; Start/End are a standardized 6000-bp interval centered on rs6807275 at hg38 chr3:14232951 and are not exact CRISPR guide breakpoints; CRISPR-Cas9 endogenous deletion/editing; Allele-specific reporter assay; Reporter assay |
About Target Gene
| Target gene : | SLC6A6 |
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)
3 found
Expression of Target Genes for the Enhancer