Variant report
| Variant | rs17490397 |
|---|---|
| Chromosome Location | chr12:40585656-40585657 |
| allele | A/C |
| 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:28)
| rs_ID | r2[population] |
|---|---|
| rs17489344 | 1.00[AMR][1000 genomes] |
| rs17489764 | 1.00[AMR][1000 genomes] |
| rs17490062 | 1.00[AMR][1000 genomes] |
| rs17518532 | 1.00[AMR][1000 genomes] |
| rs17518910 | 1.00[AMR][1000 genomes] |
| rs17519034 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2252434 | 0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2256286 | 0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2256408 | 0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2638273 | 0.92[YRI][hapmap];1.00[AMR][1000 genomes] |
| rs2708429 | 1.00[AMR][1000 genomes] |
| rs2708433 | 1.00[AMR][1000 genomes] |
| rs2708439 | 0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2708440 | 0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2708444 | 0.84[YRI][hapmap] |
| rs2723256 | 1.00[AMR][1000 genomes] |
| rs2723266 | 1.00[AMR][1000 genomes] |
| rs2723267 | 0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2723272 | 0.84[YRI][hapmap] |
| rs2723273 | 0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs28370720 | 1.00[AMR][1000 genomes] |
| rs28370724 | 1.00[AMR][1000 genomes] |
| rs28370743 | 1.00[AMR][1000 genomes] |
| rs28370761 | 1.00[AMR][1000 genomes] |
| rs28370790 | 1.00[AMR][1000 genomes] |
| rs28370793 | 1.00[AMR][1000 genomes] |
| rs28740214 | 1.00[AMR][1000 genomes] |
| rs7978216 | 0.94[AFR][1000 genomes];1.00[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 | nsv558596 | chr12:40413698-40591117 | Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045516 | chr12:40543200-40589557 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | n/a |
| 3 | nsv1044685 | chr12:40574460-40771612 | Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:40584400-40586000 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
| 2 | chr12:40585600-40587200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
