Variant report
| Variant | rs4993463 |
|---|---|
| Chromosome Location | chr5:167109271-167109272 |
| 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] |
|---|---|
| rs10035233 | 0.97[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs12521170 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs1563729 | 0.86[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs2168988 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs2546988 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs279408 | 0.97[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs279409 | 0.97[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs4587095 | 0.90[EUR][1000 genomes] |
| rs4993460 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs4993461 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs4993462 | 0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs59834824 | 0.84[EUR][1000 genomes] |
| rs6555764 | 0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
| rs6555765 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs6860687 | 0.97[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs6863828 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs6885086 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs6885448 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs6885478 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs7704071 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs7704222 | 0.95[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs7704469 | 0.97[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs7723247 | 0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs7724248 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs7725107 | 0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[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 | nsv932627 | chr5:166744408-167290959 | Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | nsv1032559 | chr5:167070888-167210684 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1027805 | chr5:167082800-167285008 | Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv5115 | chr5:167101911-167147020 | Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:167090600-167115800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr5:167109000-167115800 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
