Variant report
| Variant | rs58503179 |
|---|---|
| Chromosome Location | chr2:114546491-114546492 |
| allele | A/C |
| 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:22)
| rs_ID | r2[population] |
|---|---|
| rs11883517 | 1.00[EUR][1000 genomes] |
| rs11884386 | 1.00[EUR][1000 genomes] |
| rs11893594 | 0.89[EUR][1000 genomes] |
| rs11898549 | 0.89[EUR][1000 genomes] |
| rs11900919 | 1.00[EUR][1000 genomes] |
| rs2595146 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2595147 | 0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2595149 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs2595150 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2687625 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2922397 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs55904407 | 1.00[EUR][1000 genomes] |
| rs57221018 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs57637656 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs61017541 | 0.89[AFR][1000 genomes] |
| rs61237312 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72946684 | 0.89[EUR][1000 genomes] |
| rs72946686 | 0.89[EUR][1000 genomes] |
| rs72946701 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72946702 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72948606 | 1.00[EUR][1000 genomes] |
| rs72948653 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1009509 | chr2:114432965-114557306 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv535896 | chr2:114432965-114557306 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:114543400-114549000 | Weak transcription | HSMM | muscle |
