Variant report
| Variant | rs11068501 |
|---|---|
| Chromosome Location | chr12:117895134-117895135 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:1)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:2 , 50 per page) page:
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(count:1 , 50 per page) page:
1
| No. | lncRNA name | Chromosome Location | lncRNA alias |
|---|---|---|---|
| 1 | lnc-NOS1-2 | chr12:117890859-117896866 | NONHSAT031009 |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000255686 | Chromatin interaction |
| ENSG00000089250 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:18)
| rs_ID | r2[population] |
|---|---|
| rs10507280 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs10774926 | 0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs10850827 | 0.83[CEU][hapmap];0.93[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1104863 | 0.92[CHD][hapmap];0.86[GIH][hapmap] |
| rs11068499 | 0.83[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs11068500 | 0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes] |
| rs11068503 | 0.89[JPT][hapmap] |
| rs11068505 | 0.82[ASN][1000 genomes] |
| rs11068506 | 0.83[ASN][1000 genomes] |
| rs1111578 | 0.92[CHD][hapmap];0.85[GIH][hapmap] |
| rs11613545 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12302697 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs12304889 | 0.81[ASN][1000 genomes] |
| rs12320449 | 0.93[CHB][hapmap];0.82[ASN][1000 genomes] |
| rs12813784 | 1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs12813801 | 1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes] |
| rs61071715 | 0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs73208197 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv560386 | chr12:117822187-117991547 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv899543 | chr12:117882412-117925208 | ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11068501 | NOS1 | cis | parietal | SCAN |
| rs11068501 | P4HA1 | trans | cerebellum | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:117894200-117904600 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
