About Enhancer
| Enhancer ID: | E_01653 |
| 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: | human GWAS cohorts |
| Cell Type: | pericyte / vascular mural cell |
| Cell Ontology ID: | CL:0000669 |
| Experiment Type: | Functional FOXF2 enhancer core with CTCF occupancy; endogenous enhancer perturbation and target-gene validation |
| 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; qPCR; zebrafish enhancer reporter |
About Target Gene
| Target gene : | FOXF2 |
About TF
| TF name : | CTCF |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| CTCF | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| CTCF | TGF_beta_Receptor | netpath | 220 |
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_01621 | 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 |
Expression of Target Genes for the Enhancer