Variant report
Variant | rs1884722 |
---|---|
Chromosome Location | chr2:31748207-31748208 |
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 | chr2:31742379..31744112-chr2:31748051..31749878,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10204002 | 0.84[EUR][1000 genomes] |
rs1042578 | 0.81[ASW][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap] |
rs11690596 | 1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap] |
rs11889731 | 1.00[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[TSI][hapmap];0.93[ASN][1000 genomes] |
rs11892064 | 0.86[CHB][hapmap];0.92[ASN][1000 genomes] |
rs12691180 | 0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12712320 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12997020 | 0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12997024 | 0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13016636 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs13395648 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes] |
rs13432696 | 0.86[EUR][1000 genomes] |
rs17011453 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
rs206804 | 0.83[JPT][hapmap] |
rs206805 | 0.83[JPT][hapmap] |
rs206841 | 0.82[EUR][1000 genomes] |
rs206844 | 0.82[EUR][1000 genomes] |
rs2268794 | 1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[ASN][1000 genomes] |
rs2281546 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[TSI][hapmap];0.93[ASN][1000 genomes] |
rs28383032 | 0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs28383050 | 0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs35702549 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs3731586 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs3754838 | 1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes] |
rs3819844 | 0.83[EUR][1000 genomes] |
rs4141419 | 0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs472445 | 0.84[EUR][1000 genomes] |
rs479847 | 0.81[EUR][1000 genomes] |
rs533833 | 0.82[EUR][1000 genomes] |
rs6543632 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6543633 | 0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6543634 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs7562326 | 1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes] |
rs7571644 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7594951 | 1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes] |
rs7599086 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs9332975 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv532648 | chr2:31591498-32312698 | Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
2 | nsv456030 | chr2:31598823-31820256 | Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
3 | nsv456041 | chr2:31598823-31820256 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
4 | nsv581269 | chr2:31598823-31820256 | Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
5 | nsv998853 | chr2:31601455-31858961 | Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
6 | nsv1005565 | chr2:31603134-31868877 | Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
7 | nsv1007179 | chr2:31616112-31835410 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
8 | nsv1005032 | chr2:31616112-31867450 | Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
9 | nsv1013891 | chr2:31629179-31854283 | Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
10 | nsv535612 | chr2:31629179-31854283 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
11 | nsv999815 | chr2:31654667-31777296 | Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:31747400-31748800 | Strong transcription | Liver | Liver |
2 | chr2:31747600-31748800 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
3 | chr2:31748200-31750400 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |