Variant report
| Variant | rs12273491 |
|---|---|
| Chromosome Location | chr11:105258612-105258613 |
| 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 | chr11:105250266..105253126-chr11:105256715..105259279,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs11226747 | 1.00[ASN][1000 genomes] |
| rs1124519 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12271813 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12276410 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12277176 | 1.00[ASN][1000 genomes] |
| rs12277602 | 1.00[ASN][1000 genomes] |
| rs12279551 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12284249 | 0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs12292447 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12294105 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12294519 | 1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs12295139 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs1449052 | 0.89[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs17104155 | 0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs1945982 | 1.00[ASN][1000 genomes] |
| rs2122164 | 0.83[AFR][1000 genomes] |
| rs59105307 | 1.00[ASN][1000 genomes] |
| rs61168136 | 1.00[ASN][1000 genomes] |
| rs7125192 | 1.00[ASN][1000 genomes] |
| rs7129250 | 1.00[ASN][1000 genomes] |
| rs73623862 | 0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs73633675 | 1.00[ASN][1000 genomes] |
| rs73633677 | 1.00[ASN][1000 genomes] |
| rs73633691 | 1.00[ASN][1000 genomes] |
| rs73633692 | 1.00[ASN][1000 genomes] |
| rs73634420 | 1.00[ASN][1000 genomes] |
| rs7936745 | 1.00[ASN][1000 genomes] |
| rs7944758 | 0.88[EUR][1000 genomes] |
| rs9988804 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs9988915 | 1.00[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 | nsv949337 | chr11:104950007-105510193 | Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 2 | nsv430427 | chr11:105224246-105287241 | Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 3 | nsv556221 | chr11:105243371-105392079 | Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:105258200-105259000 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
