Variant report
| Variant | rs56959802 |
|---|---|
| Chromosome Location | chr13:49290191-49290192 |
| 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:27)
| rs_ID | r2[population] |
|---|---|
| rs12184704 | 0.98[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12184705 | 0.98[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17072105 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17072181 | 0.91[EUR][1000 genomes] |
| rs1998511 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs57042574 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs57186324 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs58150329 | 0.90[EUR][1000 genomes] |
| rs60424010 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61027580 | 0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6561478 | 0.90[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73478310 | 0.98[AFR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73478325 | 0.84[EUR][1000 genomes] |
| rs73478365 | 0.83[ASN][1000 genomes] |
| rs9591202 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9591203 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9591204 | 0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9591205 | 0.81[EUR][1000 genomes] |
| rs9591206 | 0.91[ASN][1000 genomes] |
| rs9591208 | 0.91[EUR][1000 genomes] |
| rs9595975 | 0.90[EUR][1000 genomes] |
| rs9595977 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9595978 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9595989 | 0.91[EUR][1000 genomes] |
| rs9595991 | 0.81[EUR][1000 genomes] |
| rs985466 | 0.93[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9888525 | 0.81[ASN][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 | nsv1049117 | chr13:49089476-49928945 | Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 2 | nsv832605 | chr13:49171305-49344970 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 6 gene(s) | inside rSNPs | diseases |
| 3 | esv2758327 | chr13:49283983-49472517 | Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 4 | esv2759936 | chr13:49283983-49472517 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:49259000-49302200 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 2 | chr13:49288200-49290400 | ZNF genes & repeats | Dnd41 | blood |
| 3 | chr13:49290000-49294400 | Weak transcription | Hela-S3 | cervix |
