Variant report
Variant | rs1596509 |
---|---|
Chromosome Location | chr12:41131755-41131756 |
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] |
---|---|
rs10506173 | 0.91[EUR][1000 genomes] |
rs10784813 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs11836043 | 0.86[ASN][1000 genomes] |
rs1348509 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs1373424 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs1444203 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
rs1444204 | 1.00[CEU][hapmap];0.90[EUR][1000 genomes] |
rs1584093 | 0.81[CEU][hapmap];0.90[EUR][1000 genomes] |
rs1596539 | 1.00[JPT][hapmap];0.86[ASN][1000 genomes] |
rs17120936 | 1.00[JPT][hapmap] |
rs17128689 | 0.90[EUR][1000 genomes] |
rs1816856 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs1867430 | 0.93[EUR][1000 genomes] |
rs2053629 | 0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs2120599 | 0.83[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs4275691 | 1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs55635729 | 0.94[EUR][1000 genomes] |
rs55736346 | 0.89[EUR][1000 genomes] |
rs55786396 | 0.94[EUR][1000 genomes] |
rs56032335 | 0.91[EUR][1000 genomes] |
rs56334222 | 0.90[EUR][1000 genomes] |
rs56383533 | 0.90[EUR][1000 genomes] |
rs57772297 | 0.91[EUR][1000 genomes] |
rs57816451 | 0.91[EUR][1000 genomes] |
rs59066229 | 0.91[EUR][1000 genomes] |
rs6581906 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs6581931 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6581932 | 0.86[ASN][1000 genomes] |
rs6581934 | 0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7137967 | 0.94[EUR][1000 genomes] |
rs7138084 | 0.94[EUR][1000 genomes] |
rs7296616 | 0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs7301307 | 1.00[JPT][hapmap] |
rs73110852 | 0.90[EUR][1000 genomes] |
rs73110883 | 0.91[EUR][1000 genomes] |
rs74076704 | 0.91[EUR][1000 genomes] |
rs74076712 | 0.93[EUR][1000 genomes] |
rs74078532 | 0.91[EUR][1000 genomes] |
rs74078558 | 0.90[EUR][1000 genomes] |
rs74078563 | 0.90[EUR][1000 genomes] |
rs74078569 | 0.90[EUR][1000 genomes] |
rs74078570 | 0.90[EUR][1000 genomes] |
rs7959703 | 0.90[EUR][1000 genomes] |
rs7977934 | 0.93[EUR][1000 genomes] |
rs935230 | 1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | 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 |
2 | 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 |
3 | 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 |
4 | esv2751098 | chr12:41082399-41180235 | Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
5 | nsv1044513 | chr12:41091822-41175151 | Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
6 | nsv558696 | chr12:41092666-41172010 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:41128400-41132600 | Weak transcription | Foreskin Melanocyte Primary Cells skin03 | Skin |
2 | chr12:41128400-41141400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
3 | chr12:41129800-41140600 | Weak transcription | Ovary | ovary |
4 | chr12:41130000-41139200 | Weak transcription | iPS-18 Cell Line | embryonic stem cell |
5 | chr12:41131600-41135200 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |