Variant report
| Variant | rs11265216 |
|---|---|
| Chromosome Location | chr1:159475647-159475648 |
| allele | A/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] |
|---|---|
| rs10797035 | 0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs10797037 | 0.91[ASN][1000 genomes] |
| rs11265215 | 0.80[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs12127080 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12760402 | 0.88[EUR][1000 genomes] |
| rs13375812 | 0.91[ASN][1000 genomes] |
| rs4233351 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs4233352 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs4339862 | 0.80[ASW][hapmap];0.81[CEU][hapmap];0.87[CHB][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes] |
| rs4540655 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs4584388 | 0.91[ASN][1000 genomes] |
| rs4656837 | 0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap] |
| rs55836400 | 0.84[ASN][1000 genomes] |
| rs56376195 | 0.89[ASN][1000 genomes] |
| rs6680456 | 0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6687518 | 0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73013349 | 0.89[ASN][1000 genomes] |
| rs7514139 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7525975 | 0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7532282 | 0.86[AMR][1000 genomes];0.88[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 | nsv1005195 | chr1:159452759-159910337 | Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 90 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:6)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11265216 | CD48 | cis | cerebellum | SCAN |
| rs11265216 | ARHGEF11 | cis | cerebellum | SCAN |
| rs11265216 | THBS3 | cis | cerebellum | SCAN |
| rs11265216 | MUC1 | cis | parietal | SCAN |
| rs11265216 | TMEM79 | cis | cerebellum | SCAN |
| rs11265216 | CD84 | cis | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:159475000-159476200 | Enhancers | Primary monocytes fromperipheralblood | blood |
| 2 | chr1:159475400-159476200 | Flanking Active TSS | Monocytes-CD14+_RO01746 | blood |
