Variant report
| Variant | rs1581057 |
|---|---|
| Chromosome Location | chr3:161821524-161821525 |
| allele | A/C |
| 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:29)
| rs_ID | r2[population] |
|---|---|
| rs1027921 | 0.83[ASN][1000 genomes] |
| rs1119974 | 0.89[ASN][1000 genomes] |
| rs12638402 | 0.97[ASN][1000 genomes] |
| rs1355290 | 0.80[ASN][1000 genomes] |
| rs1397238 | 0.83[ASN][1000 genomes] |
| rs1397239 | 0.83[ASN][1000 genomes] |
| rs1510346 | 0.83[ASN][1000 genomes] |
| rs1813301 | 0.87[ASN][1000 genomes] |
| rs2089737 | 0.87[ASN][1000 genomes] |
| rs2136712 | 0.83[ASN][1000 genomes] |
| rs2175265 | 0.83[ASN][1000 genomes] |
| rs4355296 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4355297 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4465957 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4508798 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4602407 | 0.80[ASN][1000 genomes] |
| rs4856668 | 0.87[ASN][1000 genomes] |
| rs4856746 | 0.89[ASN][1000 genomes] |
| rs6778769 | 0.85[ASN][1000 genomes] |
| rs6789187 | 0.87[ASN][1000 genomes] |
| rs6789851 | 0.87[ASN][1000 genomes] |
| rs7635026 | 0.80[ASN][1000 genomes] |
| rs9290111 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs9816747 | 0.87[ASN][1000 genomes] |
| rs9819073 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs9819461 | 0.83[ASN][1000 genomes] |
| rs9876455 | 0.87[ASN][1000 genomes] |
| rs9883680 | 0.83[ASN][1000 genomes] |
| rs993596 | 0.89[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv460919 | chr3:161799090-162094430 | Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 2 | nsv592144 | chr3:161799090-162094430 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 3 | nsv877713 | chr3:161807012-161847016 | Enhancers Weak transcription Active TSS | n/a | n/a | inside rSNPs | diseases |
| 4 | nsv877714 | chr3:161807012-161854219 | Enhancers Flanking Active TSS Weak transcription Active TSS | n/a | n/a | inside rSNPs | diseases |
| 5 | nsv877715 | chr3:161807012-161862628 | Enhancers Weak transcription Flanking Active TSS Active TSS | n/a | n/a | inside rSNPs | diseases |
| 6 | nsv877716 | chr3:161817368-161847016 | Enhancers Weak transcription Active TSS | n/a | n/a | inside rSNPs | diseases |
Variant related diseases (count:1)
| Disease | PMID | Source |
|---|---|---|
| Social communication problems | 24564958 | GWAS catalog |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1581057 | SMC4 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr3:161821200-161822200 | Enhancers | Dnd41 | blood |
