Variant report
| Variant | rs7297753 |
|---|---|
| Chromosome Location | chr12:67793111-67793112 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- 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 |
| No data |
(count:2 , 50 per page) page:
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| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:31)
| rs_ID | r2[population] |
|---|---|
| rs10506547 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1066387 | 0.84[JPT][hapmap] |
| rs10784625 | 0.84[JPT][hapmap] |
| rs10784626 | 0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10878609 | 0.88[ASN][1000 genomes] |
| rs11176678 | 0.84[JPT][hapmap] |
| rs1252406 | 0.84[JPT][hapmap] |
| rs1252414 | 0.84[JPT][hapmap] |
| rs1252423 | 0.84[JPT][hapmap] |
| rs1658780 | 0.84[JPT][hapmap] |
| rs1920436 | 0.90[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs1985475 | 0.84[JPT][hapmap] |
| rs6581753 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs710622 | 0.84[JPT][hapmap] |
| rs710623 | 0.84[JPT][hapmap] |
| rs7310645 | 0.94[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs7315612 | 0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7316350 | 0.87[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs775307 | 0.84[JPT][hapmap] |
| rs775310 | 0.84[JPT][hapmap] |
| rs775628 | 0.84[JPT][hapmap] |
| rs775634 | 0.84[JPT][hapmap] |
| rs775650 | 0.84[JPT][hapmap] |
| rs775656 | 0.83[JPT][hapmap] |
| rs775657 | 0.84[JPT][hapmap] |
| rs775662 | 0.84[JPT][hapmap] |
| rs800166 | 0.84[JPT][hapmap] |
| rs800167 | 0.84[JPT][hapmap] |
| rs812325 | 0.84[JPT][hapmap] |
| rs812326 | 0.84[JPT][hapmap] |
| rs983630 | 0.84[JPT][hapmap] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv559212 | chr12:67373549-67850925 | Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 2 | nsv1054111 | chr12:67556780-67865542 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7297753 | GRIP1 | cis | cerebellum | SCAN |
| rs7297753 | CAND1 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:67790000-67794600 | Weak transcription | Skeletal Muscle Male | skeletal muscle |
| 2 | chr12:67792800-67794400 | Enhancers | Skeletal Muscle Female | skeletal muscle |
