Variant report
| Variant | rs2730700 |
|---|---|
| Chromosome Location | chr12:84893569-84893570 |
| allele | C/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 | chr12:84892820..84894512-chr12:84900141..84901736,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10735471 | 0.95[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs1482399 | 0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs2468292 | 0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2468301 | 0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs2611289 | 0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs2611290 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2611291 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs2926474 | 0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7300387 | 0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7301380 | 0.82[AMR][1000 genomes] |
| rs7311282 | 0.96[AFR][1000 genomes];0.94[EUR][1000 genomes] |
| rs870484 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs898299 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs898300 | 0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs898301 | 0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs982021 | 0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 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 | nsv899363 | chr12:84450824-84940345 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv899365 | chr12:84511125-84940345 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv899369 | chr12:84536107-85067814 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 4 | nsv1035863 | chr12:84710250-85331290 | Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
| 5 | nsv1035236 | chr12:84790507-85350433 | Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 6 | nsv1054448 | chr12:84870138-84893729 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 7 | nsv430521 | chr12:84886467-84926332 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 8 | nsv899373 | chr12:84891803-84999922 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS | Chromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:84893000-84896400 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
