Variant
Enhancer-Gene Model Prediction Table
This table shows which genes are predicted to be regulated by enhancers overlapping the variant you’re viewing.
| Column | Description |
|---|---|
| Cell Type | The specific cell type for the prediction |
| Target Gene | The gene predicted to be regulated (click to view more details) |
| Score | The strength of the prediction (higher is stronger) |
| Dataset | The source dataset (click for more information) |
| Model | The predictive model used |
| Variant-Gene Distance | Physical distance between the variant and gene |
The table is initially sorted by Score in descending order, showing the strongest predictions first.
Variants in Linkage Disequilibrium Table
This table displays information about variants that are in linkage disequilibrium (LD) with the current variant.
| Column | Description |
|---|---|
| rsID | The reference SNP ID (click for more details) |
| LD (r²) and LD (D’) | Measures of linkage disequilibrium |
| Cell Types w/ pred. EG link | Cell types with predicted enhancer-gene links |
| Genes w/ pred. EG link | Genes with predicted enhancer-gene links |
| Ancestry | The population ancestry for the LD information |
| Most Severe Consequence | The predicted functional impact |
You can filter this table by ancestry using the dropdown menu above the table.
GWAS Association Table
This table shows phenotypes (traits or diseases) associated with the variant through genome-wide association studies (GWAS).
| Column | Description |
|---|---|
| Phenotype Term | The associated trait or disease |
| Study Details | Information about the study (ID, name, author, etc.) |
| p-value | The statistical significance of the association |
| Beta | The effect size and direction |
Coding Variant Prediction Table
If the variant affects a protein-coding region, this table provides predictions about its impact on protein function.
| Column | Description |
|---|---|
| Gene and Transcript Information | Details about the affected gene and transcript |
| Protein Change | How the variant changes the protein sequence |
| Prediction Scores | Various tools’ predictions of the variant’s impact (higher scores generally indicate more severe impacts) |
Each table can be sorted by clicking on the column headers. You can also use the search box above each table to filter the results.