Variant report
| Variant | rs60477253 |
|---|---|
| Chromosome Location | chr2:168140769-168140770 |
| allele | G/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:27)
| rs_ID | r2[population] |
|---|---|
| rs10193480 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes] |
| rs10497323 | 0.84[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs12611980 | 0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs12612028 | 0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs1357598 | 0.90[EUR][1000 genomes] |
| rs1564384 | 0.80[EUR][1000 genomes] |
| rs16853244 | 0.80[EUR][1000 genomes] |
| rs1842233 | 0.81[AMR][1000 genomes];0.80[EUR][1000 genomes] |
| rs2177440 | 0.88[EUR][1000 genomes] |
| rs2204279 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs4315485 | 0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs57543537 | 0.80[EUR][1000 genomes] |
| rs60988732 | 0.93[EUR][1000 genomes] |
| rs61036436 | 0.85[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs6432989 | 0.80[EUR][1000 genomes] |
| rs6708386 | 0.80[EUR][1000 genomes] |
| rs6746061 | 0.80[EUR][1000 genomes] |
| rs73029721 | 0.82[EUR][1000 genomes] |
| rs7419512 | 0.80[EUR][1000 genomes] |
| rs7556840 | 0.80[EUR][1000 genomes] |
| rs7560985 | 0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs7564986 | 0.82[EUR][1000 genomes] |
| rs7569158 | 0.80[EUR][1000 genomes] |
| rs7602119 | 0.80[EUR][1000 genomes] |
| rs7603500 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7605309 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9784125 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][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 | nsv875377 | chr2:168084857-168203116 | Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
| 2 | nsv979347 | chr2:168092753-168141678 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers | Chromatin interactive regionmiRNA target site | n/a | inside rSNPs | diseases |
| 3 | nsv875378 | chr2:168107491-168297961 | Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
| 4 | esv3364733 | chr2:168109919-168302141 | Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:168133000-168143600 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
