Variant report
| Variant | rs383250 |
|---|---|
| Chromosome Location | chr20:22267870-22267871 |
| allele | A/C |
| 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 | chr20:21792123..21794803-chr20:22267492..22269699,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:19)
| rs_ID | r2[population] |
|---|---|
| rs1429447 | 0.83[ASN][1000 genomes] |
| rs169228 | 0.86[ASN][1000 genomes] |
| rs199782 | 0.86[ASN][1000 genomes] |
| rs199783 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs199792 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs200359 | 0.93[ASN][1000 genomes] |
| rs200364 | 0.86[ASN][1000 genomes] |
| rs200365 | 0.86[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs200367 | 0.86[ASN][1000 genomes] |
| rs200368 | 0.83[CHB][hapmap];0.87[JPT][hapmap] |
| rs200370 | 0.86[ASN][1000 genomes] |
| rs200371 | 0.86[ASN][1000 genomes] |
| rs427808 | 0.86[ASN][1000 genomes] |
| rs6137590 | 0.81[ASN][1000 genomes] |
| rs6137596 | 0.86[ASN][1000 genomes] |
| rs709009 | 0.83[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes] |
| rs804691 | 0.82[AFR][1000 genomes];0.90[ASN][1000 genomes] |
| rs804692 | 0.86[ASN][1000 genomes] |
| rs804693 | 0.86[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 | nsv1058137 | chr20:21549350-22295051 | Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
| 2 | nsv962639 | chr20:22254826-22283685 | Enhancers Weak transcription Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
