Variant report
| Variant | rs4306092 |
|---|---|
| Chromosome Location | chr1:184290515-184290516 |
| allele | C/T |
| 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:20)
| rs_ID | r2[population] |
|---|---|
| rs1006198 | 0.83[EUR][1000 genomes] |
| rs10442605 | 0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs10797954 | 0.81[ASN][1000 genomes] |
| rs10911555 | 1.00[CHB][hapmap];0.90[CHD][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs1111088 | 0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs11585071 | 0.91[CHB][hapmap] |
| rs12139721 | 0.84[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs4428848 | 1.00[CHB][hapmap];0.80[JPT][hapmap] |
| rs4651199 | 0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs4651200 | 1.00[CHB][hapmap];0.81[ASN][1000 genomes] |
| rs6424944 | 0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs6695243 | 0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs6697326 | 0.85[ASN][1000 genomes] |
| rs7522326 | 0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7522468 | 0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7530243 | 0.91[CHB][hapmap] |
| rs7554776 | 0.94[ASN][1000 genomes] |
| rs932993 | 0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs963234 | 1.00[CHB][hapmap];0.81[ASN][1000 genomes] |
| rs9787399 | 1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[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 | nsv530079 | chr1:183797938-184639971 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
| 2 | nsv528772 | chr1:184288820-184290515 | Weak transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4306092 | RALGPS2 | cis | parietal | SCAN |
| rs4306092 | NMNAT2 | cis | cerebellum | SCAN |
| rs4306092 | RGL1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:184289600-184291400 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
