Comprehensive information about experimentally validated enhancers
| 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 |
| Target gene : | BDNF-AS |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
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