About Enhancer
| Enhancer ID: | E_02463 |
| Species: | Homo sapiens |
| Position : | chr1:53893000-53895000   |
| Year: | 2024 |
| Title: | A regulatory element associated to NAFLD in the promoter of DIO1 controls LDL-C, HDL-C and triglycerides in hepatic cells. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | hepatocellular carcinoma |
| PMID: | 38365720 |
| MONDO: | MONDO:0007256 |
| Tissue: | liver |
| Tissue Ontology ID: | UBERON:0002107 |
| Cell Source: | Hep-G2 |
| CVCL ID: | CVCL_0027 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay; Endogenous enhancer perturbation; Disease-variant functional analysis |
| High Throughput Method: | RNA-seq, Hi-C; GWAS |
| Low Throughput Method: | Luciferase Reporter Assay, RT-RT-qPCR, Western blot, CRISPR Knockout; CRISPR-Cas9 endogenous deletion/editing; RT-qPCR |
About Target Gene
| Target gene : | DIO1 |
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