SNP Report
Basic Info
| Name | rs2076556 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 11:34451875 - 34451875(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | A | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.134185 | ||
| Annotation | upstream_gene_variant; intron_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000528104); intron_variant(ENST00000241052) | ||
| SIFT Annotation | deleterious | ||
| SIFT Variant Effect | deleterious(ENST00000241052) | ||
| PolyPhen Annotation | probably_damaging | ||
| PolyPhen Variant Effect | probably_damaging(ENST00000241052) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | Chromatin interactive region | ||
| Chromatin State | Weak transcription;Strong transcription;Enhancers;Flanking Active TSS;Genic enhancers | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 2)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| CAT | catalase | 11p13 | 1(1/0/0) |
| CAPRIN1 | cell cycle associated protein 1 | 11p13 | rSNP target |
SNPs in LD with rs2076556 (count: 0)
SNP related eQTL (count: 1)