Variant report
| Variant | rs7131721 |
|---|---|
| Chromosome Location | chr12:60916612-60916613 |
| 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] |
|---|---|
| rs10877438 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11173485 | 0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes] |
| rs11173492 | 0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs12310057 | 0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1393986 | 0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes] |
| rs1503578 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs1587740 | 0.82[EUR][1000 genomes] |
| rs2174177 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
| rs2654663 | 0.82[AMR][1000 genomes] |
| rs2723741 | 0.82[EUR][1000 genomes] |
| rs2723742 | 0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs4297503 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs4372489 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs4622306 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs4758865 | 0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs6581320 | 0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs7131951 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7300335 | 0.88[EUR][1000 genomes] |
| rs7312791 | 1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs905559 | 0.81[AMR][1000 genomes];0.86[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 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 | nsv832432 | chr12:60801619-60968907 | Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 3 | nsv899138 | chr12:60848962-60966997 | Flanking Active TSS Enhancers Active TSS Weak transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 4 | nsv559137 | chr12:60858680-60947395 | Enhancers Active TSS Weak transcription Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7131721 | NDUFA4L2 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:60915800-60917200 | Enhancers | Cortex derived primary cultured neurospheres | brain |
| 2 | chr12:60915800-60917200 | Enhancers | Ganglion Eminence derived primary cultured neurospheres | brain |
