About Enhancer
| Enhancer ID: | E_01621 |
| Species: | Homo sapiens |
| Position : | chr6:1335829-1335870   |
| Year: | 2022 |
| Title: | Stroke-associated intergenic variants modulate a human FOXF2 transcriptional enhancer. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | stroke susceptibility |
| PMID: | 35994645 |
| MONDO: | MONDO:0005098 |
| Tissue: | cerebral microvasculature / vascular wall |
| Cell Source: | zebrafish vascular mural-cell models |
| Cell Type: | pericyte / vascular mural cell |
| Cell Ontology ID: | CL:0000669 |
| Experiment Type: | Experimentally defined ETS1/SNP functional core within the 750-bp FOXF2 construct-E enhancer; endogenous enhancer perturbation and disease-variant analysis |
| High Throughput Method: | GWAS; ENCODE chromatin/TF integration; human-brain single-cell RNA-seq integration |
| Low Throughput Method: | Luciferase reporter; iCRISPRi; CRISPR enhancer excision; ChIP-qPCR; 42-bp deletion; allele/site-directed mutagenesis; qPCR; zebrafish reporter and vascular phenotyping |
About Target Gene
| Target gene : | FOXF2 |
About TF
| TF name : | ETS1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| ETS1 | Angiogenesis | panther | 141 |
| ETS1 | Angiopoietin receptor Tie2-mediated signaling | pid | 50 |
| ETS1 | AP-1 transcription factor network | pid | 71 |
| ETS1 | BCR signaling pathway | pid | 70 |
| ETS1 | C-MYB transcription factor network | pid | 87 |
| ETS1 | ERK cascade ( FGF8 signaling (Mouse) ) | inoh | 17 |
| ETS1 | ERK cascade ( FGF8 signaling (Xenopus) ) | inoh | 17 |
| ETS1 | FGF8 signaling pathway(Mouse) ( FGF8 signaling (Mouse) ) | inoh | 20 |
| ETS1 | FGF8 signaling pathway(Xenopus) ( FGF8 signaling (Xenopus) ) | inoh | 18 |
| ETS1 | HIF-1-alpha transcription factor network | pid | 67 |
| ETS1 | HIF-2-alpha transcription factor network | pid | 34 |
| ETS1 | IL2 | netpath | 81 |
| ETS1 | IL4-mediated signaling events | pid | 66 |
| ETS1 | IL4 | netpath | 75 |
| ETS1 | Oncogene Induced Senescence | reactome | 30 |
| ETS1 | PDGF signaling pathway | panther | 113 |
| ETS1 | Ras Pathway | panther | 69 |
| ETS1 | Signaling events mediated by focal adhesion kinase | pid | 63 |
| ETS1 | Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) | pid | 80 |
| ETS1 | TGF_beta_Receptor | netpath | 220 |
| ETS1 | VEGF signaling pathway | panther | 54 |
| ETS1 | MAPK signaling pathway - fly | kegg | 16 |
| ETS1 | Dorso-ventral axis formation | kegg | 25 |
| ETS1 | Hs_Apoptosis-related_network_due_to_altered_Notch3_in_ovarian_cancer_WP2864_79278 | wikipathways | 51 |
| ETS1 | Hs_VEGFA-VEGFR2_Signaling_Pathway_WP3888_90000 | wikipathways | 153 |
| ETS1 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 |
| ETS1 | Hs_TGF-beta_Signaling_Pathway_WP366_90028 | wikipathways | 67 |
| ETS1 | Hs_B_Cell_Receptor_Signaling_Pathway_WP23_89900 | wikipathways | 71 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
8 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01620 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01622 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01623 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01624 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01625 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01651 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01652 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01653 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
Expression of Target Genes for the Enhancer