About Enhancer
| Enhancer ID: | E_00165 |
| Species: | Homo sapiens |
| Position : | chr4:8698911-8707711   |
| 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: | Normal |
| Disease Name: | -- |
| PMID: | 40382324 |
| MONDO: | |
| Tissue: | Peripheral Blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | SC monocyte-derived cells |
| CVCL ID: | |
| Cell Type: | monocyte-derived cell |
| Cell Ontology ID: | CL:0000576 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Chromatin interaction assay, Functional perturbation assay |
| High Throughput Method: | ChIP-seq, ATAC-seq, Hi-C, RNA-seq |
| Low Throughput Method: | Luciferase Reporter Assay, Transgenic Reporter Assay, CRISPR Knockout, EMSA, ChIP-RT-qPCR, RT-RT-qPCR |
About Target Gene
| Target gene : | HMX1 |
About TF
| TF name : | MEIS1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| MEIS1 | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer