Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_01148
Species: Homo sapiens
Position : chr1:116506181-116506381
Year: 2024
Title: rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.
Genome Build: hg38
Enhancer Type: Enhancer
Condition: Disease
Disease Name: autoimmune disease
PMID:  37994973
MONDO: MONDO:0007179
Tissue: blood
Tissue Ontology ID: UBERON:0000178
Cell Source: THP-1
CVCL ID: CVCL_0006
Cell Type: malignant cell
Cell Ontology ID: CL:0001064
Experiment Type: Enhancer activity assay, TF binding assay, Chromatin interaction assay, Functional perturbation assay; Disease-variant functional analysis
High Throughput Method: Hi-C; GWAS
Low Throughput Method: Luciferase Reporter Assay, CRISPR Knockout, ChIP-RT-qPCR, EMSA, RT-RT-qPCR
About Target Gene
Target gene : CD58
About TF
TF name : ZNF35
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer