Variant report
| Variant | rs12992489 |
|---|---|
| Chromosome Location | chr2:125843337-125843338 |
| allele | G/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] |
|---|---|
| rs12993585 | 0.95[AMR][1000 genomes] |
| rs12995266 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs13014302 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs13014964 | 0.85[AMR][1000 genomes] |
| rs13024027 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs13025135 | 0.95[AMR][1000 genomes] |
| rs13033685 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs17629296 | 0.82[AMR][1000 genomes] |
| rs2421353 | 0.95[AMR][1000 genomes] |
| rs34250117 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs34308133 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs34495630 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs34528547 | 0.95[AMR][1000 genomes] |
| rs35120173 | 0.95[AMR][1000 genomes] |
| rs35318750 | 0.82[AMR][1000 genomes] |
| rs35364524 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs35614087 | 0.95[AMR][1000 genomes] |
| rs35636983 | 0.95[AMR][1000 genomes] |
| rs36108797 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs36138820 | 0.95[AMR][1000 genomes] |
| rs71428166 | 0.95[AMR][1000 genomes] |
| rs71428174 | 1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs71428188 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs71428189 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs71428190 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs71428193 | 0.86[AMR][1000 genomes];0.81[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv874991 | chr2:125692490-125901811 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv834362 | chr2:125733921-125907451 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv431646 | chr2:125780602-126174341 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers | TF binding regionChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv874992 | chr2:125817682-126046421 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:125842800-125843800 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
