Variant report
| Variant | rs9646795 |
|---|---|
| Chromosome Location | chr2:178689484-178689485 |
| allele | A/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 | chr2:178687471..178690389-chr2:178693544..178695054,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10170914 | 1.00[CEU][hapmap] |
| rs13412181 | 1.00[CEU][hapmap] |
| rs1465830 | 1.00[CHB][hapmap] |
| rs1527291 | 1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs16823484 | 0.83[EUR][1000 genomes] |
| rs16865786 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs16865818 | 0.83[EUR][1000 genomes] |
| rs16865821 | 1.00[CEU][hapmap];0.83[EUR][1000 genomes] |
| rs16865846 | 1.00[CEU][hapmap];0.83[EUR][1000 genomes] |
| rs16865903 | 0.83[EUR][1000 genomes] |
| rs16865998 | 0.83[AMR][1000 genomes] |
| rs16865999 | 0.83[AMR][1000 genomes] |
| rs16866003 | 0.83[AMR][1000 genomes] |
| rs1898012 | 1.00[CEU][hapmap] |
| rs2015183 | 1.00[CEU][hapmap] |
| rs3770053 | 0.83[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs3821011 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs41357848 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs58297855 | 0.83[EUR][1000 genomes] |
| rs6708449 | 1.00[CEU][hapmap];0.83[EUR][1000 genomes] |
| rs6733229 | 0.83[EUR][1000 genomes] |
| rs6750238 | 1.00[CEU][hapmap];0.83[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 | nsv999086 | chr2:178262348-178773585 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv536055 | chr2:178262348-178773585 | Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
| 3 | nsv583690 | chr2:178638381-178712283 | Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs9646795 | ICA1 | trans | lymphoblastoid | RTeQTL |
| rs9646795 | TAP1 | trans | lymphoblastoid | RTeQTL |
Chromatin state (count:0 , 50 per page) page:
| No data |
