Variant report
Variant | rs2083957 |
---|---|
Chromosome Location | chr12:41056743-41056744 |
allele | A/C |
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 |
No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10161139 | 0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10748131 | 0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10784786 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10879003 | 0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11177604 | 0.86[ASN][1000 genomes] |
rs11177713 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11177722 | 0.98[ASN][1000 genomes] |
rs11177948 | 0.95[ASN][1000 genomes] |
rs1348511 | 0.98[ASN][1000 genomes] |
rs1348513 | 0.98[ASN][1000 genomes] |
rs1373428 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1373429 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1444209 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1596511 | 0.87[ASN][1000 genomes] |
rs1816857 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1816858 | 0.88[ASN][1000 genomes] |
rs1838342 | 0.99[ASN][1000 genomes] |
rs4445719 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4548695 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7309561 | 0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7973726 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv899033 | chr12:40758652-41122288 | Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
2 | nsv832378 | chr12:40943111-41132305 | Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | nsv427909 | chr12:41054306-41322257 | Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
4 | nsv832379 | chr12:41054440-41232749 | Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:41056400-41056800 | ZNF genes & repeats | ES-UCSF4 Cell Line | embryonic stem cell |