About Enhancer
| Enhancer ID: | E_02753 |
| Species: | Homo sapiens |
| Position : | chr12:114701207-114704691   |
| Year: | 2012 |
| Title: | Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 22543974 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | Primary cardiomyocytes |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | ChIP-seq |
| Low Throughput Method: | Transgenic reporter assay, EMSA; In vivo phenotyping |
About Target Gene
| Target gene : | TBX5 |
About TF
| TF name : | TAL1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Expression of Target Genes for the Enhancer