About Enhancer
| Enhancer ID: | E_01027 |
| Species: | Homo sapiens |
| Position : | chr16:193013-193087   |
| Year: | 2025 |
| Title: | An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the ??-globin regulatory elements and ??-thalassemia-SEA deletion |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 39934429 |
| MONDO: | |
| Tissue: | Blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | CD71+ erythroid cells |
| CVCL ID: | |
| Cell Type: | erythroid progenitor cell |
| Cell Ontology ID: | CL:0000038 |
| Experiment Type: | Functional perturbation assay |
| High Throughput Method: | ATAC-seq |
| Low Throughput Method: | qRT-PCR, and ChIP-qPCR |
About Target Gene
| Target gene : | HBA1 |
About TF
| TF name : |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer