Variant report
| Variant | rs12330318 |
|---|---|
| Chromosome Location | chr3:24975207-24975208 |
| allele | G/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 | chr3:24975006..24977097-chr3:24999784..25002405,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs12330519 | 0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12629369 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs12638313 | 0.82[EUR][1000 genomes] |
| rs12715064 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2363523 | 0.89[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs2363524 | 0.83[AMR][1000 genomes] |
| rs2363525 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs2363526 | 0.82[AMR][1000 genomes] |
| rs2363528 | 0.82[AMR][1000 genomes] |
| rs4368469 | 0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7614721 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs7614855 | 0.84[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs7637559 | 0.88[EUR][1000 genomes] |
| rs7648839 | 0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs9812847 | 0.89[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs9845970 | 0.89[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs9872534 | 0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs9878781 | 0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs9881799 | 0.83[AMR][1000 genomes] |
| rs9882350 | 0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs9883836 | 0.82[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv589953 | chr3:24909003-25004804 | Enhancers Weak transcription Bivalent Enhancer Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv876630 | chr3:24911917-25066711 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
| 3 | nsv834644 | chr3:24936987-25112610 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv460482 | chr3:24966768-25071616 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 5 | nsv589954 | chr3:24966768-25071616 | Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 6 | nsv1008974 | chr3:24968434-24992497 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:24975000-24976000 | Enhancers | Fetal Kidney | kidney |
| 2 | chr3:24975000-24976000 | Enhancers | Fetal Lung | lung |
