Variant report
Variant | rs1023989 |
---|---|
Chromosome Location | chr12:72382329-72382330 |
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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rs_ID | r2[population] |
---|---|
rs1023990 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10506645 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11179023 | 0.81[EUR][1000 genomes] |
rs11179027 | 0.81[EUR][1000 genomes] |
rs12301662 | 0.81[EUR][1000 genomes] |
rs12319219 | 0.81[EUR][1000 genomes] |
rs1386491 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs1487278 | 0.85[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs17110532 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs17110536 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs17110540 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs17110690 | 0.85[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs2129576 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2171364 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs57706328 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs59895192 | 0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs60032326 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs67752672 | 0.81[EUR][1000 genomes] |
rs73142538 | 0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs73142553 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs73144406 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs73144416 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1048478 | chr12:72145703-72401712 | Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
2 | nsv541530 | chr12:72145703-72401712 | Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 13 gene(s) | inside rSNPs | diseases |
3 | nsv518498 | chr12:72307616-72508779 | Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
4 | nsv1054578 | chr12:72307616-72509341 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:72375000-72383200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr12:72377800-72383600 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |