Variant report
Variant | rs12372281 |
---|---|
Chromosome Location | chr12:59209270-59209271 |
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] |
---|---|
rs1020031 | 0.83[TSI][hapmap] |
rs10877178 | 0.82[CHB][hapmap] |
rs10877180 | 1.00[CEU][hapmap];0.83[TSI][hapmap] |
rs10877182 | 0.83[TSI][hapmap] |
rs10877183 | 0.83[TSI][hapmap] |
rs10877185 | 0.83[TSI][hapmap] |
rs11172711 | 0.93[AMR][1000 genomes] |
rs11172717 | 1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs11172727 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs11172730 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11172731 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11172737 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11172739 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11172742 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11172759 | 1.00[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs11172771 | 0.88[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs11172773 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172774 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172775 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172777 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172778 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172779 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172780 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172783 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172784 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172786 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172787 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172790 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11172791 | 1.00[CHB][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap] |
rs11172805 | 0.83[TSI][hapmap] |
rs11172817 | 0.83[TSI][hapmap] |
rs11172818 | 0.83[TSI][hapmap] |
rs1121270 | 0.86[ASN][1000 genomes] |
rs1148531 | 0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11514001 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs11514217 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs11514219 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs11514220 | 0.88[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs11514221 | 0.88[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs11520079 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs11520080 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs11520081 | 0.82[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs11520082 | 0.82[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs11520084 | 0.88[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs12146851 | 0.83[TSI][hapmap] |
rs12366986 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs12367092 | 1.00[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs12367116 | 1.00[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs12367975 | 0.93[AMR][1000 genomes] |
rs12368328 | 0.93[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs12369527 | 1.00[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs12370599 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12371811 | 0.93[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs17121454 | 0.93[AMR][1000 genomes] |
rs17121505 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17121548 | 1.00[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs17121569 | 1.00[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs17121576 | 1.00[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs17121582 | 0.94[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs2279718 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs2293659 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs55920960 | 0.82[AMR][1000 genomes] |
rs74099636 | 0.82[AMR][1000 genomes];0.84[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv2758311 | chr12:59022729-59323045 | Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
2 | esv2759902 | chr12:59022729-59323045 | Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
3 | nsv1049807 | chr12:59069437-59227711 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
4 | nsv1043385 | chr12:59149582-59758952 | Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
5 | nsv1067596 | chr12:59167152-59764208 | Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
6 | nsv492251 | chr12:59167152-59764208 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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 regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
7 | nsv818918 | chr12:59189114-59223679 | Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
8 | esv2757504 | chr12:59191729-59234072 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
9 | nsv899126 | chr12:59199972-59255857 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:59206400-59212800 | Weak transcription | Left Ventricle | heart |
2 | chr12:59207200-59212200 | Weak transcription | IMR90 fetal lung fibroblasts Cell Line | lung |
3 | chr12:59208200-59213400 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
4 | chr12:59208400-59213600 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
5 | chr12:59208600-59213400 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
6 | chr12:59209000-59211000 | Weak transcription | Fetal Heart | heart |
7 | chr12:59209200-59212800 | Weak transcription | Liver | Liver |
8 | chr12:59209200-59213200 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
9 | chr12:59209200-59215000 | Weak transcription | Pancreatic Islets | Pancreatic Islet |