Variant report
Variant | rs4761115 |
---|---|
Chromosome Location | chr12:85486119-85486120 |
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 |
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No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10160886 | 0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10862955 | 0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11116686 | 0.83[ASN][1000 genomes] |
rs11116701 | 0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11116704 | 0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11532387 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12229124 | 0.97[ASN][1000 genomes] |
rs12229923 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12301980 | 0.97[ASN][1000 genomes] |
rs12817187 | 0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs12823090 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs1404867 | 0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1404868 | 0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1494500 | 0.97[ASN][1000 genomes] |
rs1507214 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs1525548 | 0.97[ASN][1000 genomes] |
rs17012522 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs17012616 | 0.82[ASN][1000 genomes] |
rs1838671 | 0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1973816 | 0.97[ASN][1000 genomes] |
rs1976270 | 0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs2174754 | 0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2305102 | 0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs2404773 | 0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs3765044 | 0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4761074 | 0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4761075 | 0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4761123 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs66617212 | 0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7133493 | 0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7304576 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7312075 | 0.97[ASN][1000 genomes] |
rs7954110 | 0.97[ASN][1000 genomes] |
rs7962411 | 0.97[ASN][1000 genomes] |
rs7965562 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7966105 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv899377 | chr12:85157346-85629241 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
2 | nsv1040452 | chr12:85179586-85747907 | Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
3 | esv1792335 | chr12:85321249-86003609 | Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
4 | nsv899387 | chr12:85427691-85629241 | Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
5 | nsv455669 | chr12:85427691-85638089 | Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
6 | nsv559653 | chr12:85427691-85638089 | Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
7 | nsv899388 | chr12:85427691-85766847 | Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
8 | nsv899389 | chr12:85430187-85499132 | Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
9 | nsv455670 | chr12:85465932-85603531 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
10 | nsv559654 | chr12:85465932-85603531 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
11 | nsv899390 | chr12:85466723-85499132 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
12 | nsv1052676 | chr12:85466799-85556788 | Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
13 | esv3428244 | chr12:85480533-85503517 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:85486000-85487400 | Enhancers | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |