About Enhancer
| Enhancer ID: | E_00013 |
| Species: | Homo sapiens |
| Position : | chr7:128573081-128574098   |
| Year: | 2023 |
| Title: | An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | autoimmune disease |
| PMID: | 36869052 |
| MONDO: | MONDO:0007179 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Primary CD14+ monocytes/macrophages |
| Cell Type: | CD14-positive monocyte / macrophage |
| Cell Ontology ID: | CL:0001054 |
| Experiment Type: | Disease-risk variant functional enhancer validation; allele-specific TF binding; chromatin looping; endogenous perturbation |
| High Throughput Method: | GWAS fine-mapping; ATAC-seq; H3K27ac/H3K4me1 ChIP-seq; ZBTB3/CTCF/RAD21 ChIP-seq; RNA-seq; 4C-seq |
| Low Throughput Method: | Luciferase reporter; 3C; CRISPRa/CRISPRi; CRISPR-Cas9 deletion/knock-in; EMSA; ChIP-qPCR; RT-qPCR; macrophage-polarization assays |
About Target Gene
| Target gene : | IRF5 |
About TF
| TF name : | ZBTB3 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
9 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00026 | chr7:128573036-128573717 | prostate gland | malignant cell | autoimmune disease |
| E_00011 | chr7:128573081-128573816 | blood | CD14-positive monocyte | autoimmune disease |
| E_00012 | chr7:128573081-128574098 | blood | CD14-positive monocyte | autoimmune disease |
| E_00023 | chr7:128573081-128573816 | blood | monocyte | autoimmune disease |
| E_00024 | chr7:128573081-128574098 | blood | monocyte | autoimmune disease |
| E_00027 | chr7:128573081-128574098 | blood | CD14-positive monocyte / macrophage | autoimmune disease |
| E_00025 | chr7:128573817-128574098 | blood | monocyte | autoimmune disease |
| E_00396 | chr7:128573817-128574098 | blood | CD14-positive monocyte | autoimmune disease |
| E_00491 | chr7:128573817-128574098 | kidney | embryonic kidney cell | NA |
Expression of Target Genes for the Enhancer