Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_02403
Species: Homo sapiens
Position : chr2:226999986-227001986
Year: 2017
Title: Characterization of enhancers and the role of the transcription factor KLF7 in regulating corneal epithelial differentiation.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: corneal astigmatism
PMID:  28916725
Tissue: cornea
Tissue Ontology ID: UBERON:0000964
Cell Source: primary human corneal epithelial cells
Cell Type: corneal epithelial cell
Cell Ontology ID: CL:0000575
Experiment Type: Disease-associated enhancer variant assay; TF binding assay
High Throughput Method: H3K4me1/H3K27ac/H3K4me3 ChIP-seq; public ChIA-PET integration; expression profiling; ChIP-seq
Low Throughput Method: Wild-type/variant luciferase reporter assay; EHF ChIP; EHF siRNA
About Target Gene
Target gene : IRS1
About TF
TF name : EHF
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
EHF PDGF signaling pathway panther 113
Enhancer Associated Network
Overlapping Enhancers (hg19) 3 found
Enhancer ID Position Tissue Cell Disease
E_02426 chr2:226998914-227004586 cornea corneal epithelial cell NA
E_02446 chr2:226998914-227004586 NA NA NA
E_02423 chr2:227000886-227001086 cornea corneal epithelial cell astigmatism
Expression of Target Genes for the Enhancer