Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_04210
Species: Homo sapiens
Position : chr1:67739940-67741075
Year: 2016
Title: An ankylosing spondylitis-associated genetic variant in the IL23R-IL12RB2 intergenic region modulates enhancer activity and is associated with increased Th1-cell differentiation.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: ankylosing spondylitis
PMID:  26916345
MONDO: MONDO:0005306
Tissue: blood
Tissue Ontology ID: UBERON:0000178
Cell Source: primary CD4-positive T cells
Cell Type: CD4-positive alpha-beta T cell
Experiment Type: Candidate regulatory-variant analysis
High Throughput Method: GWAS conditional analysis; ENCODE/Roadmap integration
Low Throughput Method: Luciferase/allelic analysis; weaker functional support than rs11209032; Luciferase reporter assay; Reporter assay
About Target Gene
Target gene : NA
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) 6 found
Enhancer ID Position Tissue Cell Disease
E_04152 chr1:67739940-67741075 blood CD4-positive alpha-beta T cell ankylosing spondylitis
E_04153 chr1:67739940-67741075 blood CD4-positive alpha-beta T cell ankylosing spondylitis
E_04168 chr1:67739940-67741075 blood CD4-positive alpha-beta T cell ankylosing spondylitis
E_04200 chr1:67739940-67741075 blood CD4-positive T cell ankylosing spondylitis
E_04205 chr1:67739940-67741075 blood CD4-positive T cell ankylosing spondylitis
E_04214 chr1:67739940-67741075 blood / hematopoietic system T-helper 1 cell ankylosing spondylitis
Expression of Target Genes for the Enhancer