Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03276
Species: Homo sapiens
Position : chr9:137494462-137494862
Year: 2024
Title: Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease.
Genome Build: hg38
Enhancer Type: Enhancer
Condition: Normal
PMID:  38378865
Tissue: endometrium
Tissue Ontology ID: UBERON:0001295
Cell Source: 1390C1
CVCL ID: CVCL_UP48
Cell Type: endometrial stromal cell
Experiment Type: CRISPR interference (CRISPRi)
High Throughput Method: lentiSTARR-seq, lentiMPRA, scATAC-seq; MPRA; whole-genome sequencing
Low Throughput Method: RT-RT-qPCR; FACS; EMSA; Reporter assay
About Target Gene
Target gene : COL5A1
About TF
TF name : TBX20
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
TBX20 Hs_Heart_Development_WP1591_90186 wikipathways 28
Enhancer Associated Network
Overlapping Enhancers (hg38) 4 found
Enhancer ID Position Tissue Cell Disease
E_03273 chr9:137494462-137494862 endometrium endometrial stromal cell NA
E_03274 chr9:137494462-137494862 endometrium endometrial stromal cell NA
E_03275 chr9:137494462-137494862 endometrium endometrial stromal cell NA
E_03277 chr9:137494462-137494862 endometrium endometrial stromal cell NA
Expression of Target Genes for the Enhancer