Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_03872 |
| Species: | Homo sapiens |
| Position : | chr8:140900000-140930000 |
| Year: | 2014 |
| Title: | The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 24667089 |
| Tissue: | brain |
| Tissue Ontology ID: | UBERON:0000955 |
| Cell Source: | Adult brain tissue |
| Cell Type: | adult brain cell |
| Experiment Type: | Chromatin interaction assay, Enhancer activity assay |
| High Throughput Method: | ChIP-seq; RNA-seq, 3C-seq; 3C; DNA methylation profiling |
| Low Throughput Method: | 3C-RT-qPCR; ChIP-RT-qPCR; Luciferase reporter assay |
| Target gene : | KCNK9 |
| TF name : | CTCF |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| CTCF | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| CTCF | TGF_beta_Receptor | netpath | 220 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_05329 | chr8:140657900-141002079 | NA | malignant cell | Bladder Cancer |