Variant report
Variant | rs28696274 |
---|---|
Chromosome Location | chr2:110383701-110383702 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
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No data |
rs_ID | r2[population] |
---|---|
rs1036317 | 0.84[EUR][1000 genomes] |
rs1036318 | 0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs10496432 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs1811388 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs28441405 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs28445980 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs28570680 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs28612440 | 0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs28719680 | 0.98[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs3213866 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs34111852 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs34311530 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs34441132 | 0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs34517320 | 0.92[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs34821058 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs35120088 | 0.83[AMR][1000 genomes] |
rs35223862 | 0.88[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs35392016 | 0.83[AMR][1000 genomes] |
rs35550721 | 0.85[EUR][1000 genomes] |
rs35955221 | 0.83[AMR][1000 genomes] |
rs4482487 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs4953729 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs4953788 | 0.88[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs4953847 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4953848 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4953849 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4953853 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs55794045 | 0.90[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs56265736 | 0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs56794190 | 0.91[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs58031484 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs6594050 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6594053 | 0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6594054 | 0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6709945 | 0.92[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs6719215 | 0.92[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs6725792 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs6737736 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6751785 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6760577 | 0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs72824788 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs72824796 | 0.92[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs72824802 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs72826816 | 0.97[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs72826817 | 0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs753492 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs7565483 | 0.86[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs7577865 | 0.94[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs892462 | 0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs9330317 | 0.83[AMR][1000 genomes] |
rs9330321 | 0.83[AMR][1000 genomes] |
rs9752531 | 0.87[AFR][1000 genomes];0.83[AMR][1000 genomes] |
rs9798179 | 0.83[AMR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv874777 | chr2:109825516-110693317 | Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
2 | nsv874780 | chr2:110078080-110432886 | Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
3 | nsv1011456 | chr2:110290958-110980402 | Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 60 gene(s) | inside rSNPs | diseases |
4 | nsv535861 | chr2:110290958-110980402 | Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 60 gene(s) | inside rSNPs | diseases |
5 | nsv482469 | chr2:110302488-110452580 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
6 | nsv1009367 | chr2:110349178-110863354 | Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 36 gene(s) | inside rSNPs | diseases |
7 | esv2762780 | chr2:110367969-110462496 | Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
8 | nsv491837 | chr2:110381297-110964737 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:110377200-110387400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr2:110381800-110387800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
3 | chr2:110383200-110385200 | Enhancers | HepG2 | liver |