Variant report
| Variant | rs17608635 |
|---|---|
| Chromosome Location | chr4:45079676-45079677 |
| 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] |
|---|---|
| rs10003954 | 0.85[EUR][1000 genomes] |
| rs10007392 | 0.82[EUR][1000 genomes] |
| rs10015682 | 0.90[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs10020926 | 0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs10027158 | 0.85[EUR][1000 genomes] |
| rs10428432 | 0.85[EUR][1000 genomes] |
| rs10428433 | 0.85[EUR][1000 genomes] |
| rs10938387 | 0.85[EUR][1000 genomes] |
| rs11722695 | 0.86[EUR][1000 genomes] |
| rs11732028 | 0.86[EUR][1000 genomes] |
| rs12503274 | 0.88[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs12510234 | 0.86[EUR][1000 genomes] |
| rs13114549 | 0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs13126186 | 0.85[EUR][1000 genomes] |
| rs13147324 | 0.86[EUR][1000 genomes] |
| rs13152342 | 0.85[EUR][1000 genomes] |
| rs1512304 | 0.86[EUR][1000 genomes] |
| rs28550246 | 0.85[EUR][1000 genomes] |
| rs28585622 | 0.81[EUR][1000 genomes] |
| rs4518285 | 0.83[EUR][1000 genomes] |
| rs4561959 | 0.84[EUR][1000 genomes] |
| rs4616793 | 0.87[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes] |
| rs4974506 | 0.85[EUR][1000 genomes] |
| rs6447423 | 0.82[EUR][1000 genomes] |
| rs6814379 | 0.86[EUR][1000 genomes] |
| rs6817286 | 0.84[EUR][1000 genomes] |
| rs6842444 | 0.82[EUR][1000 genomes] |
| rs7356163 | 0.86[EUR][1000 genomes] |
| rs7671806 | 0.83[EUR][1000 genomes] |
| rs7672139 | 0.86[EUR][1000 genomes] |
| rs7680659 | 0.86[EUR][1000 genomes] |
| rs9917962 | 0.85[EUR][1000 genomes] |
| rs9991441 | 0.84[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv531944 | chr4:44299343-45200700 | Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 2 | nsv1014327 | chr4:44735209-45218149 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 3 | nsv878979 | chr4:44871931-45102488 | Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers | TF binding regionChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv829919 | chr4:45069901-45253808 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs17608635 | GUF1 | cis | cerebellum | SCAN |
| rs17608635 | NCR2 | trans | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:45066000-45080000 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
