Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_01639
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: Normal
Disease Name: --
PMID:  30620726
MONDO:
Tissue: Bone Marrow
Tissue Ontology ID: UBERON:0002371
Cell Source: Hematopoietic stem/progenitor cells
CVCL ID:
Cell Type: hematopoietic stem cell
Cell Ontology ID: CL:0001029
Experiment Type: Enhancer activity assay, Functional perturbation assay
High Throughput Method: RNA-seq
Low Throughput Method: Luciferase Reporter Assay, CRISPR Knockout, RT-RT-qPCR
About Target Gene
Target gene : GATA2
About TF
TF name :
About Regulatory State
Regulatory State : Silenced
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