About Enhancer
| Enhancer ID: | E_03603 |
| Species: | Homo sapiens |
| Position : | chr14:60974427-60974430   |
| Year: | 2017 |
| Title: | Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open-angle glaucoma. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | open-angle glaucoma |
| PMID: | 28717659 |
| MONDO: | MONDO:0005338 |
| Tissue: | retina |
| Tissue Ontology ID: | UBERON:0000966 |
| Cell Source: | HEK293 |
| CVCL ID: | CVCL_0045 |
| Cell Type: | embryonic kidney-derived transformed cell |
| Experiment Type: | Enhancer variant functional assay |
| Low Throughput Method: | Luciferase reporter assay; stable transgenic zebrafish enhancer assay; Sanger sequencing |
About Target Gene
| Target gene : | SIX6 |
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
Expression of Target Genes for the Enhancer