About Enhancer
| Enhancer ID: | E_03057 |
| Species: | Homo sapiens |
| Position : | chr4:111399594-111399691   |
| Year: | 2024 |
| Title: | Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | hepatocellular carcinoma |
| PMID: | 38592784 |
| MONDO: | MONDO:0007256 |
| Tissue: | liver |
| Tissue Ontology ID: | UBERON:0002107 |
| Cell Source: | Hep-G2 |
| CVCL ID: | CVCL_0027 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | TF binding assay, Functional perturbation assay; Endogenous enhancer perturbation; Chromatin-state profiling; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | RNA-seq; ChIP-seq; whole-genome sequencing |
| Low Throughput Method: | ChIP-RT-qPCR, RT-RT-qPCR, Western blot; ChIP; RT-qPCR; Mouse genetic deletion/knock-in |
About Target Gene
| Target gene : | PITX2 |
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_03072 | chr4:111397892-111402926 | kidney | transformed cell line | Axenfeld-Rieger syndrome |
Expression of Target Genes for the Enhancer