Variant report
Variant | rs7191295 |
---|---|
Chromosome Location | chr16:83128882-83128883 |
allele | A/G |
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 |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11150538 | 0.83[EUR][1000 genomes] |
rs11150539 | 0.81[EUR][1000 genomes] |
rs11647458 | 0.88[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs12149089 | 0.92[ASN][1000 genomes] |
rs12716958 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs12716959 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12716960 | 0.85[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12716961 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12920161 | 0.90[ASN][1000 genomes] |
rs12921394 | 0.90[ASN][1000 genomes] |
rs12922854 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12923526 | 0.94[ASN][1000 genomes] |
rs12924283 | 0.94[ASN][1000 genomes] |
rs12924791 | 0.94[ASN][1000 genomes] |
rs12926360 | 0.87[ASN][1000 genomes] |
rs12927276 | 0.88[EUR][1000 genomes] |
rs12927301 | 0.88[EUR][1000 genomes] |
rs12928030 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12928048 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12928063 | 0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12928432 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12929239 | 0.97[ASN][1000 genomes] |
rs12929480 | 0.88[EUR][1000 genomes] |
rs12929782 | 0.83[EUR][1000 genomes] |
rs12932330 | 0.81[ASN][1000 genomes] |
rs12933133 | 0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12933369 | 0.91[EUR][1000 genomes] |
rs12934489 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12934693 | 0.81[EUR][1000 genomes] |
rs12935419 | 0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs35791442 | 0.88[EUR][1000 genomes] |
rs4254314 | 0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs4319759 | 0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4350558 | 0.96[ASN][1000 genomes] |
rs4430723 | 1.00[ASN][1000 genomes] |
rs4514665 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4523914 | 0.86[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs4595788 | 0.82[EUR][1000 genomes] |
rs4598899 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4641734 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4782745 | 0.87[EUR][1000 genomes] |
rs4782746 | 0.92[ASN][1000 genomes] |
rs4782748 | 0.86[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs55922145 | 0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs62036564 | 0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs62036565 | 0.91[EUR][1000 genomes] |
rs6565116 | 0.84[EUR][1000 genomes] |
rs6565117 | 0.84[EUR][1000 genomes] |
rs6565119 | 0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs6565121 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs7184817 | 0.82[ASN][1000 genomes] |
rs7187580 | 0.81[ASN][1000 genomes] |
rs7189236 | 0.86[EUR][1000 genomes] |
rs7190073 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7191532 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7193877 | 0.96[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs7201057 | 0.83[ASN][1000 genomes] |
rs8052955 | 0.83[EUR][1000 genomes] |
rs8055166 | 0.83[EUR][1000 genomes] |
rs8057074 | 0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs8058790 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9934153 | 0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9934628 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9934641 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9935137 | 0.81[EUR][1000 genomes] |
rs9937458 | 0.92[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs9937468 | 0.89[EUR][1000 genomes];0.80[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1057341 | chr16:82363800-83198907 | Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 12 gene(s) | inside rSNPs | diseases |
2 | nsv542997 | chr16:82363800-83198907 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 12 gene(s) | inside rSNPs | diseases |
3 | nsv1063617 | chr16:82786803-83229529 | Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
4 | nsv573386 | chr16:83091463-83170417 | Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | nsv457582 | chr16:83103233-83148925 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
6 | nsv573387 | chr16:83103233-83148925 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
7 | nsv1060245 | chr16:83105024-83146684 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription | Chromatin interactive region | n/a | inside rSNPs | n/a |
8 | nsv833306 | chr16:83113899-83298775 | Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
9 | nsv527342 | chr16:83117361-83134689 | Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers | n/a | n/a | inside rSNPs | n/a |
10 | nsv869185 | chr16:83125002-83342105 | Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr16:83090200-83129000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
2 | chr16:83092400-83129600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
3 | chr16:83097600-83129200 | Weak transcription | HMEC | breast |
4 | chr16:83106800-83129600 | Weak transcription | HSMM | muscle |
5 | chr16:83107000-83129400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
6 | chr16:83126000-83129800 | Weak transcription | HSMMtube | muscle |
7 | chr16:83128400-83129600 | Weak transcription | Psoas Muscle | Psoas |
8 | chr16:83128800-83130200 | Enhancers | NHEK | skin |