Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03675
Species: Homo sapiens
Position : chr12:54359232-54361232
Year: 2014
Title: The identification of an ESCC susceptibility SNP rs920778 that regulates the expression of lncRNA HOTAIR via a novel intronic enhancer.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: esophageal squamous cell carcinoma
PMID:  24788237
MONDO: MONDO:0005580
Tissue: esophagus
Tissue Ontology ID: UBERON:0001043
Cell Source: ESCC cell lines and human esophageal tissue
Cell Type: esophageal epithelial cell
Experiment Type: Disease-associated allele-specific enhancer validation
High Throughput Method: Case-control genotyping / genetic association
Low Throughput Method: Luciferase reporter; allele-specific expression; RT-qPCR; Reporter assay
About Target Gene
Target gene : HOTAIR
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) 1 found
Enhancer ID Position Tissue Cell Disease
E_03630 chr12:54359946-54360613 esophagus epithelial cell esophageal squamous cell carcinoma
Expression of Target Genes for the Enhancer