Variant report
| Variant | rs12466615 |
|---|---|
| Chromosome Location | chr2:183393283-183393284 |
| 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:22)
| rs_ID | r2[population] |
|---|---|
| rs10174383 | 0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs10175845 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs10497605 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs10931016 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs11678804 | 0.93[ASN][1000 genomes] |
| rs12464556 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs12474760 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs13020976 | 0.96[ASN][1000 genomes] |
| rs1594305 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs1835339 | 0.81[ASN][1000 genomes] |
| rs1991596 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs2082134 | 0.93[ASN][1000 genomes] |
| rs2082136 | 0.93[ASN][1000 genomes] |
| rs2115863 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2887218 | 0.93[ASN][1000 genomes] |
| rs3754928 | 0.96[ASN][1000 genomes] |
| rs4666852 | 0.93[ASN][1000 genomes] |
| rs6740226 | 0.82[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs72625269 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs7606875 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs9332425 | 0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs9789764 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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 | nsv533782 | chr2:183059730-183500040 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv1009882 | chr2:183213152-184171519 | Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
| 3 | esv2830429 | chr2:183300759-183545378 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:183392400-183393800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
