Variant report
| Variant | rs905199 |
|---|---|
| Chromosome Location | chr5:57698294-57698295 |
| 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:33)
| rs_ID | r2[population] |
|---|---|
| rs10065355 | 0.98[ASN][1000 genomes] |
| rs10513142 | 0.94[EUR][1000 genomes] |
| rs11739229 | 0.95[EUR][1000 genomes] |
| rs11742895 | 0.95[EUR][1000 genomes] |
| rs11745076 | 0.95[EUR][1000 genomes] |
| rs11748388 | 0.92[EUR][1000 genomes] |
| rs13157907 | 0.92[EUR][1000 genomes] |
| rs13159047 | 0.95[EUR][1000 genomes] |
| rs151888 | 0.92[EUR][1000 genomes] |
| rs154476 | 0.92[EUR][1000 genomes] |
| rs17709103 | 0.93[CEU][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes] |
| rs17765852 | 0.95[EUR][1000 genomes] |
| rs181954 | 0.92[EUR][1000 genomes] |
| rs27210 | 0.94[EUR][1000 genomes] |
| rs27211 | 0.94[EUR][1000 genomes] |
| rs27840 | 0.94[EUR][1000 genomes] |
| rs34434884 | 0.95[EUR][1000 genomes] |
| rs35263833 | 0.94[EUR][1000 genomes] |
| rs35491600 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs35988720 | 0.92[EUR][1000 genomes] |
| rs36120901 | 0.94[EUR][1000 genomes] |
| rs36179294 | 0.94[EUR][1000 genomes] |
| rs37533 | 0.90[EUR][1000 genomes] |
| rs3846535 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4086684 | 0.81[AFR][1000 genomes] |
| rs4099272 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4099273 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4699923 | 0.81[AFR][1000 genomes] |
| rs58174847 | 0.94[EUR][1000 genomes] |
| rs71624201 | 0.94[EUR][1000 genomes] |
| rs889303 | 0.81[AFR][1000 genomes] |
| rs931745 | 0.95[EUR][1000 genomes] |
| rs986459 | 1.00[AFR][1000 genomes];1.00[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 | nsv508358 | chr5:57673230-57709684 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv1032746 | chr5:57675471-57701548 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv1028460 | chr5:57691003-57719435 | Enhancers Weak transcription Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs905199 | GZMK | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:57695600-57701400 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 2 | chr5:57698000-57699000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
| 3 | chr5:57698200-57699600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
