Variant report
| Variant | rs12315896 |
|---|---|
| Chromosome Location | chr12:67496452-67496453 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:67492809..67494685-chr12:67494838..67497752,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:33)
| rs_ID | r2[population] |
|---|---|
| rs11176587 | 1.00[EUR][1000 genomes] |
| rs11832239 | 1.00[EUR][1000 genomes] |
| rs12297026 | 1.00[EUR][1000 genomes] |
| rs12311003 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12311606 | 1.00[EUR][1000 genomes] |
| rs12314595 | 1.00[EUR][1000 genomes] |
| rs12316782 | 0.89[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1526840 | 1.00[EUR][1000 genomes] |
| rs17103083 | 1.00[AMR][1000 genomes] |
| rs17103084 | 1.00[EUR][1000 genomes] |
| rs17103108 | 1.00[EUR][1000 genomes] |
| rs17103356 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs55676601 | 1.00[AMR][1000 genomes] |
| rs57246267 | 1.00[EUR][1000 genomes] |
| rs57250913 | 1.00[EUR][1000 genomes] |
| rs7311891 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73315209 | 1.00[EUR][1000 genomes] |
| rs73315213 | 1.00[EUR][1000 genomes] |
| rs73315223 | 1.00[EUR][1000 genomes] |
| rs73315226 | 1.00[EUR][1000 genomes] |
| rs73315253 | 1.00[EUR][1000 genomes] |
| rs73317181 | 1.00[EUR][1000 genomes] |
| rs73317201 | 1.00[EUR][1000 genomes] |
| rs73318916 | 1.00[EUR][1000 genomes] |
| rs73320908 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73320944 | 1.00[EUR][1000 genomes] |
| rs73320950 | 1.00[EUR][1000 genomes] |
| rs73333072 | 1.00[EUR][1000 genomes] |
| rs73333073 | 1.00[EUR][1000 genomes] |
| rs7965522 | 1.00[EUR][1000 genomes] |
| rs7967225 | 1.00[EUR][1000 genomes] |
| rs7978079 | 1.00[EUR][1000 genomes] |
| rs7978516 | 1.00[EUR][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 | nsv541524 | chr12:67311057-67700349 | Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv559212 | chr12:67373549-67850925 | Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 3 | nsv899217 | chr12:67472631-67501987 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:67491800-67501800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr12:67496200-67496600 | Enhancers | Fetal Stomach | stomach |
