Variant report
| Variant | rs10437957 |
|---|---|
| Chromosome Location | chr12:60202218-60202219 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:104)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000237176 | TF binding region |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs1000708 | 0.82[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes] |
| rs10783999 | 0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs11173156 | 0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs12232011 | 0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs12298092 | 0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs12426819 | 0.87[CHB][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes] |
| rs1693596 | 0.90[EUR][1000 genomes] |
| rs1693609 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs1795886 | 0.96[CEU][hapmap];0.91[CHB][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes] |
| rs2132872 | 0.87[CHB][hapmap];0.85[EUR][1000 genomes] |
| rs2464685 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs2706285 | 0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2706299 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs2706301 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs2711657 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs2711666 | 1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs4405356 | 0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs7298091 | 0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869425 | chr12:59746898-60479741 | Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
| 2 | esv3365928 | chr12:60042531-60343212 | Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv899132 | chr12:60087572-60211476 | Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| 4 | nsv899133 | chr12:60135504-60202218 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 5 | nsv899134 | chr12:60141518-60263723 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 6 | nsv899135 | chr12:60156046-60228610 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
| 7 | nsv559101 | chr12:60164408-60202218 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 8 | nsv559102 | chr12:60164408-60221898 | Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:6)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs10437957 | OR6C6 | cis | cerebellum | SCAN |
| rs10437957 | GLI1 | cis | cerebellum | SCAN |
| rs10437957 | OR6C75 | cis | parietal | SCAN |
| rs10437957 | ERBB3 | cis | cerebellum | SCAN |
| rs10437957 | METTL7B | cis | cerebellum | SCAN |
| rs10437957 | KIF5A | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60190000-60206200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 2 | chr12:60198200-60206000 | Weak transcription | Aorta | Aorta |
| 3 | chr12:60202200-60204400 | Weak transcription | Fetal Heart | heart |
