Variant report
| Variant | rs17636630 |
|---|---|
| Chromosome Location | chr6:120202190-120202191 |
| allele | A/G |
| 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 | chr6:120196935..120199435-chr6:120200694..120203566,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs12527104 | 0.97[EUR][1000 genomes] |
| rs12528002 | 0.96[EUR][1000 genomes] |
| rs12530313 | 0.97[EUR][1000 genomes] |
| rs13200922 | 0.97[EUR][1000 genomes] |
| rs13206217 | 0.97[EUR][1000 genomes] |
| rs13208822 | 0.97[EUR][1000 genomes] |
| rs1329530 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1330105 | 0.97[EUR][1000 genomes] |
| rs1330106 | 0.97[EUR][1000 genomes] |
| rs1330113 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs17630332 | 0.97[EUR][1000 genomes] |
| rs2357755 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4245504 | 0.97[EUR][1000 genomes] |
| rs4403287 | 0.97[EUR][1000 genomes] |
| rs4945650 | 0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs4946445 | 0.97[EUR][1000 genomes] |
| rs4946447 | 0.97[EUR][1000 genomes] |
| rs4946448 | 0.97[EUR][1000 genomes] |
| rs496149 | 0.81[ASN][1000 genomes] |
| rs6917690 | 0.97[EUR][1000 genomes] |
| rs9374842 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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 | nsv886572 | chr6:120165475-120284480 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 2 | esv2763951 | chr6:120195400-120297444 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS | Chromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | esv2830171 | chr6:120200969-120233977 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs17636630 | GPRC6A | cis | cerebellum | SCAN |
| rs17636630 | MAN1A1 | cis | cerebellum | SCAN |
| rs17636630 | NKAIN2 | cis | parietal | SCAN |
| rs17636630 | TSPYL1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:120201800-120203000 | Enhancers | HMEC | breast |
| 2 | chr6:120202000-120202600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
