Variant report
| Variant | rs12069709 |
|---|---|
| Chromosome Location | chr1:184296520-184296521 |
| allele | A/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 | chr1:184291593..184294149-chr1:184295147..184296840,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10911556 | 0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10911557 | 0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10911560 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12059311 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12074351 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12079075 | 0.82[EUR][1000 genomes] |
| rs12079081 | 0.85[EUR][1000 genomes] |
| rs12096575 | 0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12117439 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12128914 | 0.80[EUR][1000 genomes] |
| rs12403673 | 0.81[EUR][1000 genomes] |
| rs12727053 | 0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12727591 | 0.95[EUR][1000 genomes] |
| rs12728309 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1318406 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34110117 | 0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs34782871 | 1.00[EUR][1000 genomes] |
| rs4263963 | 0.81[EUR][1000 genomes] |
| rs4618934 | 0.95[EUR][1000 genomes] |
| rs4622032 | 0.81[EUR][1000 genomes] |
| rs4651196 | 0.81[EUR][1000 genomes] |
| rs6424946 | 0.81[EUR][1000 genomes] |
| rs66536948 | 0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73059572 | 0.80[EUR][1000 genomes] |
| rs7516012 | 0.80[EUR][1000 genomes] |
| rs9645302 | 0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv530079 | chr1:183797938-184639971 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:184296000-184297600 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
