Variant report
| Variant | rs905559 |
|---|---|
| Chromosome Location | chr12:60989194-60989195 |
| 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] |
|---|---|
| rs10877438 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs11173492 | 0.81[EUR][1000 genomes] |
| rs12310057 | 0.81[EUR][1000 genomes] |
| rs1393986 | 0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs1503576 | 0.83[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1503577 | 0.83[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs1503578 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1587740 | 0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs2174177 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2455855 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs2654661 | 0.83[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs2654663 | 0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2654664 | 0.81[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs2723741 | 0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2723742 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4622306 | 0.81[EUR][1000 genomes] |
| rs4758865 | 0.81[EUR][1000 genomes] |
| rs7131721 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs7131951 | 0.81[EUR][1000 genomes] |
| rs7312791 | 0.81[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1047466 | chr12:60702221-61521156 | Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv1038670 | chr12:60953171-61020723 | ZNF genes & repeats Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 3 | nsv470298 | chr12:60962321-61028217 | Weak transcription Enhancers ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | nsv469414 | chr12:60966997-61028217 | ZNF genes & repeats Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 5 | nsv559143 | chr12:60966997-61028217 | Enhancers ZNF genes & repeats Weak transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 6 | nsv1051641 | chr12:60986661-61161174 | Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 7 | nsv541508 | chr12:60986661-61161174 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs905559 | NDUFA4L2 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60988800-60994800 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
