Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_02391
Species: Homo sapiens
Position : chr4:56908277-56909126
Year: 2026
Title: Functional Genomics Link REST to Endothelial Plasticity and Atherosclerosis.
Genome Build: hg38
Enhancer Type: Enhancer
Condition: Disease
Disease Name: coronary artery disease
PMID:  41293823
Tissue: aorta
Tissue Ontology ID: UBERON:0000947
Cell Source: Primary human aortic endothelial cells (HAEC
Cell Type: aortic endothelial cell
Cell Ontology ID: CL:0002544
Experiment Type: Enhancer activity assay; Allele-specific regulatory assay; Genetic association assay; eQTL colocalization assay; Endogenous enhancer perturbation; In vivo functional validation
High Throughput Method: CAD GWAS; endothelial eQTL meta-analysis; CAFEH multi-trait colocalization; endothelial ATAC-seq (public datasets); RNA-seq; eQTL analysis; GWAS
Low Throughput Method: Dual-luciferase reporter assay using 200-bp rs6853156 CRE1 C/T constructs; Sanger sequencing; CRISPRi; Mouse genetic deletion/knock-in
About Target Gene
Target gene : REST
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 (hg38) 2 found
Enhancer ID Position Tissue Cell Disease
E_02422 chr4:56908277-56909126 aorta aortic endothelial cell coronary artery disease
E_02438 chr4:56908277-56909126 NA endothelial cell coronary artery disease
Expression of Target Genes for the Enhancer