About Enhancer
| Enhancer ID: | E_03574 |
| Species: | Homo sapiens |
| Position : | chr6:7563220-7563274   |
| Year: | 2020 |
| Title: | Genome-Wide Association Study: Functional Variant rs2076295 Regulates Desmoplakin Expression in Airway Epithelial Cells. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | idiopathic pulmonary fibrosis |
| PMID: | 32551799 |
| MONDO: | MONDO:0800504 |
| Tissue: | bronchus |
| Tissue Ontology ID: | UBERON:0002185 |
| Cell Source: | Primary normal human bronchial epithelial cells |
| Cell Type: | bronchial epithelial cell |
| Cell Ontology ID: | CL:0002328 |
| Experiment Type: | Disease-variant functional analysis; endogenous enhancer/regulatory-core deletion; CRISPRi; single-base editing; target-gene expression validation |
| High Throughput Method: | GWAS/eQTL colocalization; RNA-seq; single-cell RNA-seq analysis |
| Low Throughput Method: | CRISPR/Cas9 55-bp regional deletion; CRISPR indel editing; CRISPRi; HDR/single-base editing; RT-qPCR; ddPCR; Sanger sequencing; luciferase reporter assay |
About Target Gene
| Target gene : | DSP |
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)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03589 | chr6:7563220-7563274 | bronchus | bronchial epithelial cell | idiopathic pulmonary fibrosis |
Expression of Target Genes for the Enhancer