Variant report
Variant | rs668968 |
---|---|
Chromosome Location | chr12:48005448-48005449 |
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 |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10875666 | 0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10875677 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs10875682 | 0.83[EUR][1000 genomes] |
rs10875685 | 0.89[CHB][hapmap];0.94[CHD][hapmap];0.83[JPT][hapmap] |
rs10875687 | 0.94[CHB][hapmap];0.83[JPT][hapmap] |
rs11168167 | 0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11168191 | 0.80[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs11168192 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs11168193 | 0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs11168199 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes] |
rs11168200 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes] |
rs11168203 | 0.83[EUR][1000 genomes] |
rs11168208 | 0.94[CHB][hapmap];0.83[JPT][hapmap] |
rs11168215 | 0.94[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap] |
rs12366410 | 0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs12367193 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs12370643 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes] |
rs1541384 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs2240079 | 0.94[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap] |
rs2240080 | 0.94[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap] |
rs2283346 | 0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap] |
rs3764013 | 0.94[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap] |
rs56011001 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs56240307 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs582680 | 0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs583752 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs602143 | 0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs604662 | 0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs605499 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs611627 | 0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs612773 | 0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs61917590 | 0.83[ASN][1000 genomes] |
rs61917591 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs61917594 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs61917595 | 0.85[EUR][1000 genomes] |
rs622098 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs623894 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs630777 | 0.84[ASN][1000 genomes] |
rs632944 | 0.84[ASN][1000 genomes] |
rs634833 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs642453 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs644531 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs646223 | 0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs652380 | 1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs653136 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs658567 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs659836 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs671961 | 0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs679789 | 0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs687676 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7136143 | 0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7136561 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes] |
rs7137529 | 0.83[ASN][1000 genomes] |
rs7311663 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs7316761 | 0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs739858 | 0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7484827 | 0.94[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.82[MEX][hapmap] |
rs7954502 | 0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7968783 | 0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7969186 | 0.88[CHB][hapmap];0.88[JPT][hapmap] |
rs7976748 | 0.81[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap] |
rs7977786 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs864112 | 0.99[AMR][1000 genomes];0.98[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 | nsv558785 | chr12:47740440-48044011 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 17 gene(s) | inside rSNPs | diseases |
2 | nsv832400 | chr12:47840248-48024605 | Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
3 | nsv430507 | chr12:47883933-48079507 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | nsv1051131 | chr12:47883981-48016556 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv899056 | chr12:47940764-48012390 | Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
6 | esv2751101 | chr12:47940858-48126885 | Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
7 | nsv558786 | chr12:47942029-48044011 | Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
8 | nsv558788 | chr12:47945797-48012390 | Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
9 | esv2761737 | chr12:47946795-48045722 | Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
10 | nsv1053061 | chr12:47946795-48045722 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
11 | nsv899057 | chr12:47947551-48012390 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
12 | nsv1050043 | chr12:47949004-48087218 | Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
13 | nsv527728 | chr12:47954597-48044506 | Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:47992600-48006600 | Weak transcription | HSMMtube | muscle |
2 | chr12:47996000-48006800 | Weak transcription | Foreskin Fibroblast Primary Cells skin01 | Skin |
3 | chr12:47998800-48030800 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
4 | chr12:47999600-48006400 | Weak transcription | Primary T cells from cord blood | blood |
5 | chr12:48001800-48006800 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
6 | chr12:48002000-48005800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr12:48002000-48006800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
8 | chr12:48002600-48005800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
9 | chr12:48002600-48006400 | Weak transcription | Primary B cells from cord blood | blood |
10 | chr12:48003600-48006000 | Enhancers | Fetal Muscle Leg | muscle |
11 | chr12:48004000-48006000 | Weak transcription | Primary B cells from peripheral blood | blood |
12 | chr12:48004400-48005600 | Weak transcription | Primary neutrophils fromperipheralblood | blood |