Variant report
| Variant | rs12313808 |
|---|---|
| Chromosome Location | chr12:120325280-120325281 |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs12164852 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12307282 | 0.89[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12310524 | 0.83[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12312594 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12316230 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12316349 | 1.00[EUR][1000 genomes] |
| rs12317711 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12319537 | 0.83[AMR][1000 genomes] |
| rs12319916 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs12320276 | 0.83[AMR][1000 genomes] |
| rs12321591 | 1.00[EUR][1000 genomes] |
| rs55906258 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs56233820 | 1.00[AMR][1000 genomes] |
| rs57243313 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs57459050 | 0.91[AMR][1000 genomes] |
| rs57908788 | 0.83[AMR][1000 genomes] |
| rs58111169 | 0.83[AMR][1000 genomes] |
| rs58399872 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs60588068 | 0.83[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs61507048 | 0.83[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73420611 | 0.83[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73420615 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes] |
| rs73420618 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[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 | nsv455727 | chr12:120259679-120420670 | Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 2 | nsv560397 | chr12:120259679-120420670 | Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
| 3 | nsv510575 | chr12:120303163-120437490 | Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 4 | esv3379203 | chr12:120317427-120345444 | Weak transcription Enhancers Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:120316000-120330200 | Weak transcription | A549 | lung |
| 2 | chr12:120324200-120325400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
