Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_02911
Species: Homo sapiens
Position : chr12:114463712-114464080
Year: 2012
Title: Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Normal
PMID:  22543974
Tissue: blood
Tissue Ontology ID: UBERON:0000178
Cell Source: GM12878
CVCL ID: CVCL_7526
Cell Type: B lymphoblastoid cell
Experiment Type: Enhancer activity assay
High Throughput Method: ChIP-seq
Low Throughput Method: Transgenic reporter assay
About Target Gene
Target gene : TBX5
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) 2 found
Enhancer ID Position Tissue Cell Disease
E_02804 chr12:114463712-114464080 heart malignant cell Congenital Heart Disease
E_02808 chr12:114463712-114464080 heart NA Congenital Heart Disease
Expression of Target Genes for the Enhancer