Variant report
| Variant | rs1422447 |
|---|---|
| Chromosome Location | chr5:128106790-128106791 |
| 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:24)
| rs_ID | r2[population] |
|---|---|
| rs10042834 | 0.85[EUR][1000 genomes] |
| rs10045824 | 0.81[EUR][1000 genomes] |
| rs10075245 | 0.85[EUR][1000 genomes] |
| rs1012263 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs11741074 | 0.85[EUR][1000 genomes] |
| rs11742783 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs12054810 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12719381 | 0.85[EUR][1000 genomes] |
| rs13156561 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs13169119 | 0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs13181669 | 0.88[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs13190353 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs1422444 | 0.84[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs1833666 | 0.81[EUR][1000 genomes] |
| rs2215239 | 0.82[EUR][1000 genomes] |
| rs35111151 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4836396 | 0.82[EUR][1000 genomes] |
| rs4836398 | 0.82[EUR][1000 genomes] |
| rs4836401 | 0.84[EUR][1000 genomes] |
| rs4836403 | 0.85[EUR][1000 genomes] |
| rs4836404 | 0.85[EUR][1000 genomes] |
| rs4836406 | 0.84[EUR][1000 genomes] |
| rs6595858 | 0.82[EUR][1000 genomes] |
| rs7734900 | 0.81[EUR][1000 genomes] |
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 | nsv1023405 | chr5:127955360-128190069 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv882836 | chr5:127999225-128136519 | Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1422447 | SLC27A6 | cis | parietal | SCAN |
| rs1422447 | CCNI2 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:128104000-128113600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr5:128106400-128106800 | Enhancers | HUVEC | blood vessel |
