Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00990
Species: Homo sapiens
Position : chr2:239866844-239871938
Year: 2025
Title: Genomic Locus Tagged by Lung Function GWAS SNV rs12477314 (2q373) Acts as a Regulatory Region for a Systemic Inflammatory Phenotype
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: bladder carcinoma
PMID:  40512334
MONDO: MONDO:0005094
Tissue: Bladder
Tissue Ontology ID: UBERON:0001255
Cell Source: SVHUC-1
CVCL ID: CVCL_6903
Cell Type: bladder epithelial cell
Cell Ontology ID: CL:0000066
Experiment Type: Functional perturbation assay
High Throughput Method: RNA-seq
Low Throughput Method: RT-RT-qPCR
About Target Gene
Target gene : PER2
About TF
TF name :
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg19) 1 found
Enhancer ID Position Tissue Cell Disease
E_01287 chr2:239866844-239871938 Lung non-small cell lung carcinoma cell non-small cell lung carcinoma
Expression of Target Genes for the Enhancer