Variant report
| Variant | rs493184 |
|---|---|
| Chromosome Location | chr6:49241936-49241937 |
| 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] |
|---|---|
| rs1115840 | 0.93[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs1117179 | 0.89[AMR][1000 genomes] |
| rs2157515 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs2496364 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs2516110 | 0.86[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs4478408 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs476180 | 0.80[CEU][hapmap];0.96[CHB][hapmap] |
| rs479383 | 0.81[AMR][1000 genomes] |
| rs492172 | 0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs493700 | 0.82[AMR][1000 genomes] |
| rs502946 | 0.82[CEU][hapmap];0.95[CHB][hapmap] |
| rs525559 | 0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs528451 | 0.81[AMR][1000 genomes] |
| rs539581 | 0.95[CHB][hapmap] |
| rs542538 | 0.82[AMR][1000 genomes] |
| rs555933 | 0.82[AMR][1000 genomes] |
| rs562077 | 0.82[CEU][hapmap];0.95[CHB][hapmap] |
| rs574321 | 0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs579846 | 0.84[CEU][hapmap];0.96[CHB][hapmap];0.83[AMR][1000 genomes] |
| rs7750930 | 0.87[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs7753624 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][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 | nsv949690 | chr6:48595821-49289855 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 2 | esv2755862 | chr6:49081541-49298041 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:7)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs493184 | MUT | cis | Nerve Tibial | GTEx |
| rs493184 | CENPQ | cis | Adipose Subcutaneous | GTEx |
| rs493184 | CENPQ | cis | lung | GTEx |
| rs493184 | CENPQ | cis | Esophagus Muscularis | GTEx |
| rs493184 | CENPQ | Cis_1M | lymphoblastoid | RTeQTL |
| rs493184 | CENPQ | cis | Artery Tibial | GTEx |
| rs493184 | CENPQ | cis | multi-tissue | Pritchard |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:49241200-49242200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
