Variant report
| Variant | rs12142954 |
|---|---|
| Chromosome Location | chr1:210939217-210939218 |
| allele | A/G |
| 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] |
|---|---|
| rs11119591 | 0.82[EUR][1000 genomes] |
| rs11119592 | 0.82[EUR][1000 genomes] |
| rs12137464 | 0.82[EUR][1000 genomes] |
| rs12139273 | 0.82[EUR][1000 genomes] |
| rs12139474 | 0.84[EUR][1000 genomes] |
| rs12143524 | 0.82[EUR][1000 genomes] |
| rs12562303 | 0.81[ASN][1000 genomes] |
| rs17016821 | 0.86[ASN][1000 genomes] |
| rs1934614 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1970589 | 0.96[ASN][1000 genomes] |
| rs2185384 | 0.82[EUR][1000 genomes] |
| rs4951563 | 0.91[ASN][1000 genomes] |
| rs4951566 | 0.91[ASN][1000 genomes] |
| rs4951576 | 0.80[ASN][1000 genomes] |
| rs4951591 | 0.81[ASN][1000 genomes] |
| rs56264689 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs56383511 | 0.82[EUR][1000 genomes] |
| rs57144255 | 0.84[ASN][1000 genomes] |
| rs59441822 | 0.81[ASN][1000 genomes] |
| rs59843981 | 0.83[ASN][1000 genomes] |
| rs61829490 | 0.82[EUR][1000 genomes] |
| rs61829493 | 0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs61829499 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6689950 | 0.84[ASN][1000 genomes] |
| rs6694502 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv873148 | chr1:210665583-210994339 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh | Chromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv873153 | chr1:210900481-210994339 | Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| 3 | nsv999018 | chr1:210907239-210999306 | Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:210938600-210943000 | Weak transcription | HSMMtube | muscle |
| 2 | chr1:210938600-210943800 | Weak transcription | HSMM | muscle |
