About Enhancer
| Enhancer ID: | E_03947 |
| Species: | Homo sapiens |
| Position : | chr3:128191800-128192300   |
| Year: | 2019 |
| Title: | Single-nucleotide human disease mutation inactivates a blood-regenerative GATA2 enhancer. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | acute myeloid leukemia |
| PMID: | 30620726 |
| MONDO: | MONDO:0018874 |
| Tissue: | bone marrow |
| Tissue Ontology ID: | UBERON:0002371 |
| Cell Source: | Hematopoietic stem/progenitor cells |
| Cell Type: | hematopoietic stem cell |
| Cell Ontology ID: | CL:0000037 |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay; Endogenous enhancer perturbation; In vivo functional validation |
| High Throughput Method: | RNA-seq |
| Low Throughput Method: | Luciferase Reporter Assay, CRISPR Knockout, RT-RT-qPCR; Site-directed/motif mutagenesis; Mouse genetic deletion/knock-in |
About Target Gene
| Target gene : | GATA2 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Repressed |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer