Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03177
Species: Homo sapiens
Position : chr11:27725730-27726223
Year: 2024
Title: An ancient polymorphic regulatory region within the BDNF gene associated with obesity modulates anxiety-like behaviour in mice and humans.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: obesity
PMID:  38228888
MONDO: MONDO:0011122
Tissue: nucleus accumbens
Tissue Ontology ID: UBERON:0001882
Cell Source: GTEx human nucleus accumbens tissue
Experiment Type: Genetic association analysis; eQTL/sQTL target-linking analysis; Enhancer activity assay; Endogenous enhancer perturbation; Disease-variant functional analysis; In vivo functional validation
High Throughput Method: GWAS; GTEx eQTL analysis; GTEx sQTL analysis; eQTL analysis
Low Throughput Method: Dual-luciferase reporter assay and rs10767664 site-directed mutagenesis establish BE5.1 enhancer function; no direct human BDNF-AS perturbation was performed; CRISPR-Cas9 endogenous deletion/editing; Mouse genetic deletion/knock-in
About Target Gene
Target gene : BDNF-AS
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 (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer