Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_02240
Species: Homo sapiens
Position : chr4:111544012-111544682
Year: 2016
Title: A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: atrial fibrillation
PMID:  27866707
MONDO: MONDO:0004981
Tissue: embryo
Tissue Ontology ID: UBERON:0000922
Cell Source: Danio rerio embryos
Experiment Type: In vivo enhancer activity assay; Endogenous enhancer perturbation; Disease-variant functional analysis; In vivo functional validation
Low Throughput Method: Tol2-mediated transgenic reporter assay; eGFP RT-qPCR; CRISPR-Cas9 endogenous deletion/editing; In vivo phenotyping
About Target Gene
Target gene : PITX2
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