SNP Report
| Name | rs741051 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 7:31054176 - 31054176(+) | ||
| Variant Seq | C | ||
| Ancestral Allele | C | ||
| Ref Seq | T | ||
| Minor Allele Frequence | 0.495407 | ||
| Annotation | upstream_gene_variant; intron_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000431811); intron_variant(ENST00000304166, ENST00000409363, ENST00000614107) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000326139, ENST00000409904) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000326139, ENST00000409904) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Bivalent Enhancer;Flanking Active TSS;Bivalent/Poised TSS;Active TSS;Flanking Bivalent TSS/Enh;Enhancers | ||
| No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
| Source | Literature | ||


