Variant report
Variant | rs11902539 |
---|---|
Chromosome Location | chr2:189118742-189118743 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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rs_ID | r2[population] |
---|---|
rs10171308 | 0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs10185443 | 0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10931345 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11675685 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11680857 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11687797 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs11901438 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs12613686 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4396678 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55901476 | 0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs61998215 | 0.93[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs62179630 | 0.92[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs62179642 | 0.92[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs62179644 | 0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs62179645 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62179646 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62179648 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs62179650 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6728462 | 0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs72903543 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72905541 | 0.85[AFR][1000 genomes];0.87[ASN][1000 genomes] |
rs72905544 | 0.85[AFR][1000 genomes];0.87[ASN][1000 genomes] |
rs72905553 | 0.87[ASN][1000 genomes] |
rs7557622 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1010394 | chr2:188994398-189284092 | Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 10 gene(s) | inside rSNPs | diseases |
2 | nsv998395 | chr2:189018246-189284092 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
3 | nsv511165 | chr2:189112811-189122229 | Weak transcription Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | esv3457161 | chr2:189117807-189122905 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | esv3522728 | chr2:189118457-189122255 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | esv3457165 | chr2:189118732-189122080 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:189100400-189121200 | Weak transcription | K562 | blood |
2 | chr2:189116200-189118800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |