Variant report
| Variant | rs12083930 |
|---|---|
| Chromosome Location | chr1:98656347-98656348 |
| allele | C/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:98650811..98652815-chr1:98655167..98656985,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs12069773 | 1.00[ASN][1000 genomes] |
| rs12082064 | 1.00[ASN][1000 genomes] |
| rs12094082 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs13373752 | 1.00[ASN][1000 genomes] |
| rs13374002 | 1.00[ASN][1000 genomes] |
| rs17100664 | 1.00[ASN][1000 genomes] |
| rs17117724 | 1.00[ASN][1000 genomes] |
| rs17381615 | 1.00[ASN][1000 genomes] |
| rs17385693 | 1.00[ASN][1000 genomes] |
| rs2200584 | 1.00[ASN][1000 genomes] |
| rs34660856 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs35492075 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs72737820 | 1.00[ASN][1000 genomes] |
| rs7554083 | 1.00[ASN][1000 genomes] |
| rs7554282 | 1.00[ASN][1000 genomes] |
| rs977630 | 1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1012958 | chr1:98081528-98864746 | Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 2 | nsv830736 | chr1:98488491-98663726 | Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv823631 | chr1:98554257-98687985 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv1010393 | chr1:98643684-98698557 | Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:98647200-98669000 | Weak transcription | HUVEC | blood vessel |
