Variant report
| Variant | rs6785385 |
|---|---|
| Chromosome Location | chr3:81989850-81989851 |
| 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] |
|---|---|
| rs10779987 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs11127747 | 0.90[EUR][1000 genomes] |
| rs1851918 | 0.84[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1851926 | 0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs1851928 | 0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs1969433 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4389498 | 0.89[EUR][1000 genomes] |
| rs4440144 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4452351 | 0.90[EUR][1000 genomes] |
| rs4481177 | 0.90[EUR][1000 genomes] |
| rs6548784 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6766011 | 0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6778265 | 0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs6790351 | 0.90[EUR][1000 genomes] |
| rs6797240 | 0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs6809792 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6809793 | 0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9817070 | 0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9870954 | 0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs9877408 | 0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs9968070 | 0.90[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 | nsv999992 | chr3:81693662-82015969 | Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
| 2 | nsv536605 | chr3:81693662-82015969 | Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs6785385 | GBE1 | Cis_1M | lymphoblastoid | RTeQTL |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:81984000-81990600 | Weak transcription | Psoas Muscle | Psoas |
