Variant report
| Variant | rs7968893 |
|---|---|
| Chromosome Location | chr12:22281269-22281270 |
| allele | A/C |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:22279739..22281752-chr12:22287277..22289242,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs10492281 | 0.95[ASN][1000 genomes] |
| rs10770890 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[ASN][1000 genomes] |
| rs10770891 | 0.85[ASN][1000 genomes] |
| rs11046301 | 0.81[ASN][1000 genomes] |
| rs12303121 | 0.83[ASN][1000 genomes] |
| rs12306254 | 0.84[ASN][1000 genomes] |
| rs12829732 | 0.95[ASN][1000 genomes] |
| rs12831501 | 0.95[ASN][1000 genomes] |
| rs1861710 | 0.84[ASN][1000 genomes] |
| rs2080551 | 0.83[ASN][1000 genomes] |
| rs2080554 | 0.85[ASN][1000 genomes] |
| rs2193382 | 0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2193384 | 0.96[AFR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2193385 | 0.95[AFR][1000 genomes];0.96[ASN][1000 genomes] |
| rs2193386 | 0.95[ASN][1000 genomes] |
| rs2193387 | 0.93[ASN][1000 genomes] |
| rs2970797 | 0.97[AFR][1000 genomes];0.99[ASN][1000 genomes] |
| rs34299716 | 0.95[ASN][1000 genomes] |
| rs34533494 | 0.93[ASN][1000 genomes] |
| rs35253752 | 0.95[ASN][1000 genomes] |
| rs35683388 | 0.95[ASN][1000 genomes] |
| rs36064966 | 0.80[ASN][1000 genomes] |
| rs3937473 | 0.93[ASN][1000 genomes] |
| rs6487285 | 0.85[ASN][1000 genomes] |
| rs7138641 | 0.97[ASN][1000 genomes] |
| rs71448629 | 0.94[ASN][1000 genomes] |
| rs7296982 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[ASN][1000 genomes] |
| rs7300750 | 0.95[ASN][1000 genomes] |
| rs7969364 | 0.81[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2758298 | chr12:22140834-22339299 | Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | esv2759883 | chr12:22140834-22736907 | Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| 3 | nsv521691 | chr12:22280926-22281269 | ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7968893 | ST8SIA1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:22280800-22281400 | ZNF genes & repeats | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
