Variant report
| Variant | rs12578493 |
|---|---|
| Chromosome Location | chr12:42332313-42332314 |
| 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:34)
| rs_ID | r2[population] |
|---|---|
| rs11181265 | 0.94[ASN][1000 genomes] |
| rs12578119 | 1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12578156 | 1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12579046 | 1.00[EUR][1000 genomes] |
| rs12579248 | 1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12579406 | 1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12581580 | 1.00[EUR][1000 genomes] |
| rs12582190 | 1.00[EUR][1000 genomes] |
| rs12582741 | 1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs1390999 | 1.00[EUR][1000 genomes] |
| rs1497160 | 1.00[EUR][1000 genomes] |
| rs1497171 | 1.00[EUR][1000 genomes] |
| rs1497172 | 1.00[EUR][1000 genomes] |
| rs17090714 | 1.00[EUR][1000 genomes] |
| rs17090734 | 1.00[EUR][1000 genomes] |
| rs17576374 | 1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs17576430 | 1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs17576634 | 1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs17604154 | 1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs17604161 | 1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs17604260 | 1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs17604358 | 1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs2406425 | 1.00[EUR][1000 genomes] |
| rs34906873 | 1.00[EUR][1000 genomes] |
| rs35196631 | 0.93[ASN][1000 genomes] |
| rs3937913 | 1.00[EUR][1000 genomes] |
| rs4643129 | 1.00[EUR][1000 genomes] |
| rs58012900 | 1.00[EUR][1000 genomes] |
| rs59262536 | 1.00[EUR][1000 genomes] |
| rs59980396 | 0.94[ASN][1000 genomes] |
| rs61442472 | 1.00[EUR][1000 genomes] |
| rs73270680 | 1.00[EUR][1000 genomes] |
| rs73276316 | 1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs74077428 | 0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv430505 | chr12:42297931-42720773 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:42326800-42333800 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
| 2 | chr12:42328000-42336000 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |
