Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_03722 |
| 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: | primary neuroblastoma tumors |
| 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 |
| Target gene : | LMO1 |
| TF name : | GATA3 |
| Regulatory State : | Active |
| 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 |