Variant report
| Variant | rs62410744 |
|---|---|
| Chromosome Location | chr6:48748320-48748321 |
| 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:25)
| rs_ID | r2[population] |
|---|---|
| rs12664992 | 0.88[EUR][1000 genomes] |
| rs1317061 | 0.88[EUR][1000 genomes] |
| rs13205302 | 0.88[EUR][1000 genomes] |
| rs13206024 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs1938174 | 0.87[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs1938205 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs2186208 | 0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs28593678 | 0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs35275869 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs4379291 | 0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs4711916 | 0.97[ASN][1000 genomes] |
| rs62413160 | 0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs62413163 | 0.87[EUR][1000 genomes] |
| rs9357582 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs9357583 | 0.84[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs9357584 | 0.88[EUR][1000 genomes] |
| rs9369813 | 1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs9369816 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs9369818 | 0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs9381697 | 0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9381701 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs9381704 | 0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs9395407 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9395413 | 0.88[EUR][1000 genomes] |
| rs9395414 | 0.88[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1033151 | chr6:48067287-48797029 | Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv538217 | chr6:48067287-48797029 | Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | nsv949690 | chr6:48595821-49289855 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | esv17513 | chr6:48745206-48753735 | Enhancers Weak transcription | n/a | n/a | inside rSNPs | n/a |
| 5 | nsv1033717 | chr6:48747810-48775237 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | n/a |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs62410744 | MUT | cis | Nerve Tibial | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:48746000-48752600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
