Variant report
| Variant | rs67712818 |
|---|---|
| Chromosome Location | chr2:189791219-189791220 |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs13306264 | 0.80[ASN][1000 genomes] |
| rs1516440 | 0.93[AMR][1000 genomes] |
| rs1516441 | 0.93[AMR][1000 genomes] |
| rs16830872 | 0.86[AMR][1000 genomes] |
| rs17241638 | 0.92[AFR][1000 genomes];0.91[AMR][1000 genomes] |
| rs17291017 | 0.93[AMR][1000 genomes] |
| rs17357358 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs17357387 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs17357408 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes] |
| rs1914028 | 0.84[AMR][1000 genomes] |
| rs1914029 | 0.93[AMR][1000 genomes] |
| rs1914030 | 0.95[AMR][1000 genomes] |
| rs4308073 | 0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs56284022 | 0.82[AFR][1000 genomes];0.85[ASN][1000 genomes] |
| rs72910734 | 0.85[ASN][1000 genomes] |
| rs72910737 | 0.85[ASN][1000 genomes] |
| rs73033503 | 0.94[AFR][1000 genomes];0.91[AMR][1000 genomes] |
| rs73033510 | 0.92[AFR][1000 genomes];0.91[AMR][1000 genomes] |
| rs73050211 | 0.93[AMR][1000 genomes] |
| rs73050212 | 0.93[AMR][1000 genomes] |
| rs73050213 | 0.95[AMR][1000 genomes] |
| rs73050229 | 0.93[AMR][1000 genomes] |
| rs73052303 | 0.89[AFR][1000 genomes];0.95[AMR][1000 genomes] |
| rs73052342 | 0.91[AMR][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 | nsv1003974 | chr2:189331760-189827814 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv834490 | chr2:189703550-189840963 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv875608 | chr2:189753823-189837995 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:189790200-189794000 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
