Variant report
| Variant | rs7133497 |
|---|---|
| Chromosome Location | chr12:48788086-48788087 |
| allele | A/G |
| 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 |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs10783235 | 0.92[JPT][hapmap] |
| rs10875766 | 0.81[JPT][hapmap] |
| rs10875798 | 0.92[JPT][hapmap] |
| rs11168453 | 0.81[JPT][hapmap] |
| rs11168454 | 0.81[JPT][hapmap] |
| rs11168458 | 0.92[JPT][hapmap] |
| rs11168541 | 0.91[JPT][hapmap] |
| rs12371700 | 0.83[MEX][hapmap] |
| rs12372687 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs12426877 | 0.90[JPT][hapmap] |
| rs12822431 | 0.92[JPT][hapmap] |
| rs12831063 | 0.92[JPT][hapmap] |
| rs2261608 | 0.92[JPT][hapmap] |
| rs2291483 | 0.92[JPT][hapmap] |
| rs3752820 | 0.92[JPT][hapmap] |
| rs4760703 | 0.81[JPT][hapmap] |
| rs56354789 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs7134019 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7301176 | 0.92[CEU][hapmap];0.80[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs7314569 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs7959684 | 0.82[LWK][hapmap];0.91[YRI][hapmap];0.82[AFR][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 | esv2758307 | chr12:48429702-48825499 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 2 | esv2759898 | chr12:48429702-48825499 | Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 3 | nsv427911 | chr12:48670336-48979396 | Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 4 | nsv832402 | chr12:48686761-48851020 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:4)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7133497 | CCNT1 | cis | cerebellum | SCAN |
| rs7133497 | TMBIM6 | cis | parietal | SCAN |
| rs7133497 | LMBR1L | cis | cerebellum | SCAN |
| rs7133497 | RPAP3 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48784200-48789800 | Weak transcription | Aorta | Aorta |
| 2 | chr12:48784600-48788200 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
