About Enhancer
| Enhancer ID: | E_03540 |
| Species: | Homo sapiens |
| Position : | chr17:54775600-54778000   |
| Year: | 2015 |
| Title: | Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 25704602 |
| Cell Source: | GMSM-K (human embry-onic oral epithelial cells) |
| Experiment Type: | Enhancer activity assay; Genetic-variant functional analysis; In vivo functional validation |
| Low Throughput Method: | Luciferase reporter assay; Reporter assay |
About Target Gene
| Target gene : | NOG |
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)
3 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03559 | chr17:54775600-54778000 | optic fissure | cranial neural crest/mesenchymal cell | orofacial cleft |
| E_03563 | chr17:54775600-54778000 | optic fissure | cranial neural crest/mesenchymal cell | orofacial cleft |
| E_03561 | chr17:54776294-54777215 | Palatal epithelium | fibroblast | NA |
Expression of Target Genes for the Enhancer