Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00014
Species: Homo sapiens
Position : chr2:127082600-127082962
Year: 2019
Title: Brain cell type-specific enhancer-promoter interactome maps and disease risk association
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: Alzheimer's disease
PMID:  31727856
MONDO: MONDO:0004992
Tissue: Brain microglia
Tissue Ontology ID: CL:0000129
Cell Source: hPSC-derived microglia
CVCL ID:
Cell Type: Human pluripotent stem cell derived microglia
Cell Ontology ID: CL:0000129
Experiment Type: CRISPR-Cas9 loss-of-function deletion, PLAC-seq chromatin interaction, ChIP-qPCR
High Throughput Method: ATAC-seq, H3K27ac ChIP-seq, H3K4me3 ChIP-seq, PLAC-seq, RNA-seq, LDSC GWAS heritability analysis
Low Throughput Method: qRT-PCR, dual-luciferase reporter, , RNA FISH super-resolution imaging, subcellular fractionation, xenograft in vivo tumor assay
About Target Gene
Target gene : BIN1
About TF
TF name : PU.1
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg19) 2 found
Enhancer ID Position Tissue Cell Disease
E_00015 chr2:127082600-127082962 Brain microglia Human pluripotent stem cell derived neuron Alzheimer's disease
E_00016 chr2:127082600-127082962 Brain microglia Human pluripotent stem cell derived astrocyte Alzheimer's disease
Expression of Target Genes for the Enhancer