Variant report
| Variant | rs2192174 |
|---|---|
| Chromosome Location | chr12:21558220-21558221 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:2)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:2 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:21556694..21559135-chr12:21561507..21563153,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| SLCO1A2 | TF binding region |
rSNPs within LD-proxies of this variant (count:5)
| rs_ID | r2[population] |
|---|---|
| rs12317302 | 0.91[EUR][1000 genomes] |
| rs12322793 | 0.97[EUR][1000 genomes] |
| rs12322891 | 0.85[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs17681255 | 1.00[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs17681288 | 1.00[AMR][1000 genomes];0.88[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1040888 | chr12:21522271-21568550 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv519603 | chr12:21526472-21584709 | Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv470274 | chr12:21531437-21568050 | Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 4 | nsv469162 | chr12:21532100-21568051 | Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv557740 | chr12:21532100-21568051 | Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv898894 | chr12:21545532-21583242 | Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 7 | nsv526789 | chr12:21555691-21590788 | Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 11 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
