About Enhancer
| Enhancer ID: | E_00025 |
| Species: | Homo sapiens |
| Position : | chr7:128573817-128574098   |
| 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: | SC monocyte-derived cells |
| Cell Type: | monocyte |
| Cell Ontology ID: | CL:0000576 |
| Experiment Type: | Allele-specific enhancer activity; TF binding; chromatin looping; causal-variant perturbation; Disease-variant functional analysis |
| 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 assay; 3C; CRISPRa; CRISPRi; CRISPR-Cas9 deletion/knock-in; EMSA; ChIP-qPCR; RT-qPCR; macrophage-polarization assay |
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)
6 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00012 | chr7:128573081-128574098 | blood | CD14-positive monocyte | autoimmune disease |
| E_00013 | chr7:128573081-128574098 | blood | CD14-positive monocyte / macrophage | autoimmune disease |
| E_00024 | chr7:128573081-128574098 | blood | monocyte | autoimmune disease |
| E_00027 | chr7:128573081-128574098 | blood | CD14-positive monocyte / macrophage | 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