About Enhancer
| Enhancer ID: | E_01070 |
| Species: | Homo sapiens |
| Position : | chr19:16439455-16439541   |
| Year: | 2024 |
| Title: | KLF2 enhancer variant rs4808485 increases lupus risk by modulating inflammasome machinery and cellular homoeostasis. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | systemic lupus erythematosus |
| PMID: | 38373841 |
| MONDO: | MONDO:0007915 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | primary immune cells from healthy controls and patients with SLE |
| Cell Type: | immune cell |
| Cell Ontology ID: | CL:0000988 |
| Experiment Type: | Enhancer activity assay, TF binding assay, Chromatin interaction assay, Functional perturbation assay; Enhancer activity assay; Endogenous enhancer perturbation; Disease-variant functional analysis |
| High Throughput Method: | ChIP-seq, RNA-seq, 3C-seq; RNA-seq; eQTL analysis; GWAS |
| Low Throughput Method: | Luciferase Reporter Assay, ChIP-RT-qPCR, CRISPR Knockout, CRISPRi, RT-RT-qPCR, Western blot; CRISPR-Cas9 endogenous deletion/editing; Luciferase reporter assay; ChIP; Allele-specific reporter assay; Reporter assay |
About Target Gene
| Target gene : | KLF2 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Repressed |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer