Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00614
Species: Homo sapiens
Position : chr1:156099538-156100640
Year: 2021
Title: Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Normal
PMID:  33478249
Tissue: heart left ventricle
Tissue Ontology ID: UBERON:0002084
Cell Source: GM03348-derived human iPSC cardiomyocytes
Cell Type: cardiac muscle cell
Cell Ontology ID: CL:0000746
Experiment Type: Enhancer activity assay
High Throughput Method: Promoter Capture Hi-C; H3K27ac ChIP-seq; ATAC-seq; H3K4me3 ChIP-seq; CTCF ChIP-seq; p300 ChIP-seq; cardiac TF ChIP-seq
Low Throughput Method: Dual-luciferase reporter assay of LMNA-C6 in iPSC-CMs and HL-1 cells
About Target Gene
Target gene : LMNA
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_00470 chr1:156099538-156100640 left cardiac ventricle ventricular cardiomyocyte cardiomyopathy
E_00615 chr1:156099538-156100640 heart left ventricle cardiac muscle cell NA
Expression of Target Genes for the Enhancer