Variant report
| Variant | rs7540794 |
|---|---|
| Chromosome Location | chr1:84924179-84924180 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:84923797..84925779-chr1:84971517..84974315,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000122432 | Chromatin interaction |
| ENSG00000174021 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10493746 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs12755232 | 0.89[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs1340598 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs1506702 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs1506703 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs17131698 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs17131701 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs17131702 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs17131707 | 0.82[EUR][1000 genomes] |
| rs1827939 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs1959757 | 0.83[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs1959758 | 0.81[EUR][1000 genomes] |
| rs2008711 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs2105267 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs2389742 | 0.87[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs34760754 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs35779335 | 0.88[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs3768250 | 0.83[GIH][hapmap];0.90[MEX][hapmap] |
| rs4345821 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs4907074 | 0.88[ASN][1000 genomes] |
| rs61766293 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs61766294 | 0.88[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs6701340 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs7514800 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
| rs7515554 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs959363 | 0.83[AMR][1000 genomes];0.82[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv830437 | chr1:84837524-85001269 | Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 40 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7540794 | GNG5 | cis | parietal | SCAN |
| rs7540794 | DDAH1 | cis | cerebellum | SCAN |
Chromatin state (count:0 , 50 per page) page:
| No data |
