Variant report
| Variant | rs12860685 |
|---|---|
| Chromosome Location | chr13:93683065-93683066 |
| 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] |
|---|---|
| rs10492624 | 1.00[ASN][1000 genomes] |
| rs160266 | 1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2588436 | 1.00[ASN][1000 genomes] |
| rs28802592 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs465879 | 0.92[ASN][1000 genomes] |
| rs466293 | 0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs4773706 | 0.88[ASN][1000 genomes] |
| rs71202572 | 0.81[ASN][1000 genomes] |
| rs72642692 | 1.00[ASN][1000 genomes] |
| rs72642693 | 1.00[ASN][1000 genomes] |
| rs72642694 | 1.00[ASN][1000 genomes] |
| rs72644515 | 1.00[ASN][1000 genomes] |
| rs72644517 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7321797 | 0.81[ASN][1000 genomes] |
| rs7330229 | 1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes] |
| rs7338423 | 0.92[ASN][1000 genomes] |
| rs7988435 | 1.00[ASN][1000 genomes] |
| rs9523901 | 0.81[ASN][1000 genomes] |
| rs9561245 | 1.00[ASN][1000 genomes] |
| rs9561251 | 0.81[ASN][1000 genomes] |
| rs9589672 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv869070 | chr13:93347616-94286933 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 2 | esv2760298 | chr13:93496826-93738391 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv900911 | chr13:93666118-93768862 | Enhancers Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs12860685 | ABCC4 | cis | cerebellum | SCAN |
| rs12860685 | ABCC4 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:93682800-93684200 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
| 2 | chr13:93682800-93684200 | Weak transcription | Osteobl | bone |
