About Enhancer
| Enhancer ID: | E_00546 |
| Species: | Homo sapiens |
| Position : | chr16:194000-195400   |
| Year: | 2021 |
| Title: | A gain-of-function single nucleotide variant creates a new promoter which acts as an orientation-dependent enhancer-blocker |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 34155213 |
| MONDO: | |
| Tissue: | Blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | iPSC-derived erythroblasts |
| CVCL ID: | |
| Cell Type: | iPSC-derived erythroblast |
| Cell Ontology ID: | CL:0000765 |
| Experiment Type: | Enhancer activity assay, Chromatin interaction assay |
| High Throughput Method: | ChIP-seq, ATAC-seq, RNA-seq, 3C-seq |
| Low Throughput Method: | ChIP-RT-qPCR, qRT-PCR |
About Target Gene
| Target gene : | HBA1 |
About TF
| TF name : | GATA1; KLF1; TAL1 |
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