Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_00563 |
| Species: | Homo sapiens |
| Position : | chr4:8712912-8728565 |
| Year: | 2025 |
| Title: | Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | chronic myeloid leukemia |
| PMID: | 40382324 |
| MONDO: | MONDO:0011998 |
| Tissue: | Blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | K562 |
| CVCL ID: | CVCL_0004 |
| Cell Type: | chronic myeloid leukemia cell |
| Cell Ontology ID: | CL:0001054 |
| Experiment Type: | Enhancer activity assay, Chromatin interaction assay |
| High Throughput Method: | ChIP-seq, ATAC-seq, Hi-C |
| Low Throughput Method: | Transgenic Reporter Assay |
| Target gene : | HMX1 |
| TF name : |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|