Variant report
| Variant | rs12586556 |
|---|---|
| Chromosome Location | chr14:81911462-81911463 |
| 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 | chr14:81684944..81686707-chr14:81908977..81911709,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs11159500 | 1.00[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12100504 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12100962 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12100967 | 0.95[ASN][1000 genomes] |
| rs12101219 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12586522 | 1.00[AMR][1000 genomes] |
| rs12586611 | 1.00[AMR][1000 genomes] |
| rs12586817 | 1.00[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12589111 | 1.00[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12589155 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12590539 | 0.84[ASN][1000 genomes] |
| rs17111807 | 1.00[AMR][1000 genomes] |
| rs17111825 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs17111839 | 0.91[ASN][1000 genomes] |
| rs17111840 | 0.91[ASN][1000 genomes] |
| rs17111848 | 0.91[ASN][1000 genomes] |
| rs17847450 | 1.00[EUR][1000 genomes] |
| rs2371601 | 1.00[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs28409508 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs3853422 | 1.00[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs58510940 | 1.00[EUR][1000 genomes] |
| rs58975890 | 0.91[ASN][1000 genomes] |
| rs731389 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs731390 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73344128 | 0.84[ASN][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 | esv3358936 | chr14:81786719-81928269 | Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | n/a |
| 2 | nsv1047694 | chr14:81831147-82534026 | Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv542145 | chr14:81831147-82534026 | Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:81910000-81919000 | Weak transcription | K562 | blood |
| 2 | chr14:81910600-81915400 | Weak transcription | Aorta | Aorta |
