Variant report
Variant | rs820793 |
---|---|
Chromosome Location | chr2:57851904-57851905 |
allele | C/G |
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 | chr2:57850261..57851990-chr2:57852642..57855006,2 | K562 | blood: |
No data |
No data |
No data |
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rs_ID | r2[population] |
---|---|
rs10496070 | 0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11125723 | 0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs12053055 | 0.87[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1380708 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs1405824 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs17205452 | 0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2125922 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2695593 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2695594 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2695596 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2695597 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2695598 | 0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2695605 | 0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs36195265 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs4671314 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs820794 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs820797 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv999898 | chr2:57193127-57901238 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
2 | nsv535729 | chr2:57193127-57901238 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
3 | nsv1007118 | chr2:57562051-58147588 | Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
4 | nsv834137 | chr2:57683649-57913898 | Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
5 | nsv874193 | chr2:57758608-58066673 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
6 | nsv874194 | chr2:57793672-57896756 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
7 | nsv874195 | chr2:57808671-57855341 | Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
8 | nsv1006688 | chr2:57822953-58030203 | Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
9 | esv1816072 | chr2:57844545-57859236 | Weak transcription Enhancers Active TSS Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
10 | nsv1001948 | chr2:57846509-57901238 | ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:57846600-57855400 | Weak transcription | Fetal Thymus | thymus |
2 | chr2:57851800-57852600 | Enhancers | HUES48 Cell Line | embryonic stem cell |
3 | chr2:57851800-57852600 | Enhancers | iPS-18 Cell Line | embryonic stem cell |