Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_04551
Species: Homo sapiens
Position : chr17:37912040-37913027
Year: 2019
Title: Functional SNPs in the Human Autoimmunity-Associated Locus 17q12-21.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: autoimmune disease susceptibility at 17q12-21
PMID:  30678091
Tissue: blood
Tissue Ontology ID: UBERON:0000178
Cell Source: NALM-6
CVCL ID: CVCL_0092
Cell Type: B-lymphoblast
Cell Ontology ID: CL:0017006
Experiment Type: Disease-variant enhancer reporter assay; GWAS/epigenomic prioritization; site-directed allelic comparison
High Throughput Method: GWAS/fine-mapping; ENCODE DHS/H3K27ac/TF ChIP-seq integration
Low Throughput Method: Luciferase reporter assay; PCR/site-directed mutagenesis
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) 2 found
Enhancer ID Position Tissue Cell Disease
E_04543 chr17:37912040-37913027 blood B cell autoimmune disease susceptibility at 17q12-21
E_04550 chr17:37912040-37913027 blood monocyte-like cell autoimmune disease susceptibility at 17q12-21
Expression of Target Genes for the Enhancer