Variant report
| Variant | rs995795 |
|---|---|
| Chromosome Location | chr12:26048362-26048363 |
| allele | C/T |
| 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 | chr12:26047646..26049706-chr12:26058324..26060174,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10771244 | 0.84[AMR][1000 genomes];0.82[ASN][1000 genomes] |
| rs10771246 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1167616 | 0.94[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs1167621 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1167622 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs1177525 | 0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1179567 | 0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1183253 | 0.82[CHB][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap] |
| rs16929655 | 0.93[CEU][hapmap] |
| rs16929681 | 0.81[CEU][hapmap] |
| rs16929684 | 0.87[CEU][hapmap];0.84[MEX][hapmap] |
| rs1797970 | 0.83[AMR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2054889 | 1.00[CEU][hapmap] |
| rs2634171 | 0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7307605 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7953605 | 0.87[MEX][hapmap] |
| rs829821 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs829834 | 0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs862621 | 0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs865504 | 0.94[AMR][1000 genomes];0.95[EUR][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 | esv2758300 | chr12:25992331-26161116 | Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases |
| 2 | esv2759886 | chr12:25992331-26161116 | Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 38 gene(s) | inside rSNPs | diseases |
| 3 | nsv1035319 | chr12:26020667-26097148 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers | TF binding regionChromatin interactive regionlncRNAmiRNA | 6 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs995795 | ST8SIA1 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:26045000-26049800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:26045400-26049800 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
