About Enhancer
| Enhancer ID: | E_04878 |
| Species: | Homo sapiens |
| Position : | chr16:164235-164590   |
| Year: | 2025 |
| Title: | An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the 汐-globin regulatory elements and 汐-thalassemia--SEA deletion. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | hemoglobin H disease |
| PMID: | 39934429 |
| MONDO: | MONDO:0013512 |
| Tissue: | pleural effusion |
| Tissue Ontology ID: | UBERON:0000175 |
| Cell Source: | K-562 |
| CVCL ID: | CVCL_0004 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay; structural variant functional analysis |
| High Throughput Method: | Whole-genome sequencing; optical genome mapping; ATAC-seq |
| Low Throughput Method: | Dual-luciferase reporter assay (356-bp MCS-R2/HS-40 wild-type versus reverse-orientation construct with HBA2 promoter); MLPA; long-range PCR; Sanger sequencing; Luciferase reporter assay; Reporter assay |
About Target Gene
| Target gene : | HBA2 |
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 (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer