Variant report
| Variant | rs74080428 |
|---|---|
| Chromosome Location | chr12:45420678-45420679 |
| allele | C/T |
| 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:30)
| rs_ID | r2[population] |
|---|---|
| rs11182756 | 0.84[AMR][1000 genomes] |
| rs11182799 | 0.83[AMR][1000 genomes] |
| rs11182800 | 0.85[AMR][1000 genomes] |
| rs11182802 | 0.83[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11830299 | 0.85[AMR][1000 genomes] |
| rs11836961 | 1.00[EUR][1000 genomes] |
| rs11837935 | 1.00[EUR][1000 genomes] |
| rs12306208 | 0.96[ASN][1000 genomes] |
| rs12313452 | 1.00[EUR][1000 genomes] |
| rs1495041 | 1.00[EUR][1000 genomes] |
| rs17095327 | 0.92[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs17095370 | 0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs17095379 | 0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs17095386 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs2160987 | 0.90[EUR][1000 genomes] |
| rs35139683 | 0.96[ASN][1000 genomes] |
| rs35531664 | 0.96[ASN][1000 genomes] |
| rs364282 | 0.87[AMR][1000 genomes] |
| rs3803173 | 0.84[ASN][1000 genomes] |
| rs57404677 | 0.82[EUR][1000 genomes] |
| rs57765913 | 0.82[AMR][1000 genomes] |
| rs59211662 | 1.00[EUR][1000 genomes] |
| rs59431125 | 0.95[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs7138268 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7303544 | 0.93[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs7314773 | 0.93[AMR][1000 genomes];0.80[ASN][1000 genomes] |
| rs73275543 | 0.93[AMR][1000 genomes] |
| rs73275548 | 0.92[AMR][1000 genomes] |
| rs7976293 | 0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs978696 | 0.98[AMR][1000 genomes];1.00[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 | esv3351644 | chr12:45345597-45529449 | Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | nsv1045857 | chr12:45351172-45468784 | Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv541485 | chr12:45351172-45468784 | Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:45419200-45424200 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
| 2 | chr12:45420600-45423200 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
