Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03583
Species: Homo sapiens
Position : chr14:60973427-60975430
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: Primary Open-Angle Glaucoma
PMID:  28717659
Cell Source: Eye
Experiment Type: Enhancer activity assay; Chromatin interaction assay; In vivo functional validation; Disease-associated enhancer analysis
Low Throughput Method: Luciferase reporter assay; Reporter assay; Transgenic/LacZ assay
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
Overlapping Enhancers (hg19) 2 found
Enhancer ID Position Tissue Cell Disease
E_03603 chr14:60974427-60974430 retina embryonic kidney-derived transformed cell open-angle glaucoma
E_03604 chr14:60974427-60974430 eye transformed embryonic kidney-derived cell open-angle glaucoma
Expression of Target Genes for the Enhancer