Variant report
| Variant | rs1480390 |
|---|---|
| Chromosome Location | chr8:50108120-50108121 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10957382 | 1.00[ASN][1000 genomes] |
| rs12548812 | 0.84[ASN][1000 genomes] |
| rs12708031 | 0.81[ASN][1000 genomes] |
| rs13256466 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13261521 | 0.82[CHB][hapmap] |
| rs13262902 | 0.82[CHB][hapmap] |
| rs1383274 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1383276 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1383279 | 1.00[ASN][1000 genomes] |
| rs1480388 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1480389 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1585895 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1703573 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1703574 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1842403 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1842404 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2891746 | 0.83[AMR][1000 genomes];0.94[ASN][1000 genomes] |
| rs4427188 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6985247 | 0.97[ASN][1000 genomes] |
| rs7001422 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7015074 | 0.84[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs73678572 | 0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7832761 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9643588 | 0.82[CHB][hapmap] |
| rs9643589 | 0.84[ASN][1000 genomes] |
| rs9792367 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1025068 | chr8:49953397-50370208 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv1034908 | chr8:50023423-50416049 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv539601 | chr8:50023423-50416049 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv1024410 | chr8:50037085-50511501 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 5 | nsv428517 | chr8:50094920-50232993 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr8:50105800-50108400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
