SNP Report
Basic Info
| Name | rs1418718 dbSNP Ensembl | ||
|---|---|---|---|
| Location | 1:192807284 - 192807284(+) | ||
| Variant Seq | G | ||
| Ancestral Allele | G | ||
| Ref Seq | A | ||
| Minor Allele Frequence | 0.39377 | ||
| Annotation | upstream_gene_variant | ||
| Variant Effect | upstream_gene_variant(ENST00000487236, ENST00000464302, ENST00000235382, ENST00000483295) | ||
| SIFT Annotation | tolerated | ||
| SIFT Variant Effect | tolerated(ENST00000235382) | ||
| PolyPhen Annotation | benign | ||
| PolyPhen Variant Effect | benign(ENST00000235382) | ||
| rSNP? | Yes Link in rVarBase | ||
| Related Regulatory Elements | TF binding region;Chromatin interactive region | ||
| Chromatin State | Weak transcription;Enhancers;Flanking Active TSS;Active TSS;Bivalent/Poised TSS | ||
| No. of Marker's Association Results | 0 (Positive: 0; Negative: 0; Trend: 0) | ||
| Source | LD-proxy | ||
SNP related association results
SNP related genes (count: 3)
| Approved Symbol | Approved Name | Location | No. of Association Results (Positive/Negative/Trend)  |
|---|---|---|---|
| TROVE2 | TROVE domain family member 2 | 1q31 | rSNP target |
| UCHL5 | ubiquitin C-terminal hydrolase L5 | 1q32 | rSNP target |
| RGS2 | regulator of G-protein signaling 2 | 1q31 | 7(2/5/0) |
SNPs in LD with rs1418718 (count: 0)
SNP related eQTL (count: 1)