Variant report
| Variant | rs6490263 |
|---|---|
| Chromosome Location | chr12:120090981-120090982 |
| allele | A/G |
| 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 | chr12:119880394..119882364-chr12:120088666..120091224,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10849687 | 0.80[ASN][1000 genomes] |
| rs11064868 | 0.83[ASN][1000 genomes] |
| rs1123790 | 0.86[EUR][1000 genomes] |
| rs12309592 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs1966324 | 0.83[ASN][1000 genomes] |
| rs1985793 | 0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2188711 | 0.86[EUR][1000 genomes] |
| rs2301655 | 0.86[EUR][1000 genomes] |
| rs2393549 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2393550 | 0.91[ASN][1000 genomes] |
| rs278124 | 0.84[EUR][1000 genomes] |
| rs2893806 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs4767837 | 0.82[ASN][1000 genomes] |
| rs4767838 | 0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6490262 | 0.84[ASN][1000 genomes] |
| rs6490264 | 0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6490265 | 0.86[ASN][1000 genomes] |
| rs7969977 | 0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1052595 | chr12:119992580-120132038 | Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv541616 | chr12:119992580-120132038 | Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:120083600-120094400 | Weak transcription | HSMM | muscle |
