Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03743
Species: Homo sapiens
Position : chr11:8254408-8256408
Year: 2015
Title: Genetic predisposition to neuroblastoma mediated by a LMO1 super-enhancer polymorphism.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: neuroblastoma
PMID:  26560027
MONDO: MONDO:0005072
Tissue: sympathetic nervous system
Tissue Ontology ID: UBERON:0000013
Cell Source: Neuroblastoma Cell Lines
Cell Type: neuroblastoma cell
Experiment Type: GWAS causal-variant fine-mapping; super-enhancer annotation; allele-specific TF binding and cis-expression
High Throughput Method: GWAS/imputation; DNase-seq integration; H3K27ac/p300/GATA3 ChIP-seq integration; tumor RNA-seq
Low Throughput Method: Direct genotyping; allele-specific reporter assay; GATA3 binding analysis; allele-specific expression; Reporter assay
About Target Gene
Target gene : LMO1
About TF
TF name : GATA3
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
GATA3 C-MYB transcription factor network pid 87
GATA3 Calcineurin-regulated NFAT-dependent transcription in lymphocytes pid 50
GATA3 Factors involved in megakaryocyte development and platelet production reactome 111
GATA3 Glucocorticoid receptor regulatory network pid 85
GATA3 IL27-mediated signaling events pid 26
GATA3 Notch signaling pathway pid 58
GATA3 Regulation of nuclear SMAD2/3 signaling pid 82
GATA3 Hs_Endochondral_Ossification_WP474_87977 wikipathways 43
GATA3 Hs_White_fat_cell_differentiation_WP3946_90940 wikipathways 30
Enhancer Associated Network
Overlapping Enhancers (hg19) 2 found
Enhancer ID Position Tissue Cell Disease
E_03722 chr11:8254408-8256408 sympathetic nervous system neuroblastoma cell neuroblastoma
E_03745 chr11:8255155-8255707 NA neuroblastoma cell neuroblastoma
Expression of Target Genes for the Enhancer