About Enhancer
| Enhancer ID: | E_04822 |
| Species: | Homo sapiens |
| Position : | chr2:219988763-219991870   |
| Year: | 2023 |
| Title: | IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | squamous cell lung carcinoma |
| PMID: | 37580330 |
| MONDO: | MONDO:0005097 |
| Tissue: | lung |
| Tissue Ontology ID: | UBERON:0002048 |
| Cell Source: | Primary human LUSC tumor cells |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay; Disease-variant functional analysis |
| High Throughput Method: | ATAC-seq |
| Low Throughput Method: | Transgenic Reporter Assay, Sanger Sequencing |
About Target Gene
| Target gene : | IHH |
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)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer