Variant report
| Variant | rs12630808 |
|---|---|
| Chromosome Location | chr3:161214536-161214537 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr3:161142504..161144681-chr3:161212773..161214548,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| OTOL1 | TF binding region |
| ENSG00000240567 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs12636206 | 0.91[ASN][1000 genomes] |
| rs12636640 | 0.93[ASN][1000 genomes] |
| rs1356142 | 0.82[EUR][1000 genomes] |
| rs16832362 | 0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes] |
| rs16832441 | 0.93[ASN][1000 genomes] |
| rs35055079 | 0.81[EUR][1000 genomes] |
| rs62278271 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs62281363 | 0.82[EUR][1000 genomes] |
| rs6785300 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7620513 | 0.90[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 | nsv533237 | chr3:161019834-161804660 | Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 91 gene(s) | inside rSNPs | diseases |
| 2 | nsv877710 | chr3:161087857-161245414 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 84 gene(s) | inside rSNPs | diseases |
| 3 | nsv829773 | chr3:161150422-161315189 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
