Variant report
| Variant | rs12587520 |
|---|---|
| Chromosome Location | chr14:42130897-42130898 |
| allele | C/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:23)
| rs_ID | r2[population] |
|---|---|
| rs11157242 | 0.93[JPT][hapmap];1.00[EUR][1000 genomes] |
| rs1117723 | 0.92[JPT][hapmap];1.00[EUR][1000 genomes] |
| rs12100476 | 0.93[JPT][hapmap] |
| rs12100840 | 0.93[JPT][hapmap] |
| rs12100891 | 0.94[JPT][hapmap] |
| rs12589112 | 1.00[EUR][1000 genomes] |
| rs12589180 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs12590527 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs17092256 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17112133 | 0.92[JPT][hapmap];0.85[ASN][1000 genomes] |
| rs17112137 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs17112148 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs1956446 | 0.93[JPT][hapmap] |
| rs1956447 | 0.93[JPT][hapmap] |
| rs1998126 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs2077067 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs2166751 | 0.85[ASN][1000 genomes] |
| rs2899928 | 0.93[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs58845274 | 0.90[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs59063354 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs59937937 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs6572097 | 0.92[JPT][hapmap] |
| rs7158181 | 0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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 | nsv1047300 | chr14:41671653-42361098 | Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 2 | nsv533968 | chr14:41882101-42327882 | Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 3 | esv2758353 | chr14:42045873-42259511 | Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 4 | esv2759983 | chr14:42045873-42259511 | ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr14:42130800-42131200 | Enhancers | HUES6 Cell Line | embryonic stem cell |
