Variant report
| Variant | rs6448038 |
|---|---|
| Chromosome Location | chr4:21246214-21246215 |
| 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:23)
| rs_ID | r2[population] |
|---|---|
| rs1156764 | 0.89[EUR][1000 genomes] |
| rs11938789 | 0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11942862 | 0.88[EUR][1000 genomes] |
| rs1364837 | 0.87[EUR][1000 genomes] |
| rs1425332 | 0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs1425335 | 0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1834349 | 0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs1863290 | 0.89[EUR][1000 genomes] |
| rs2194858 | 0.82[EUR][1000 genomes] |
| rs28549829 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs6448037 | 0.89[EUR][1000 genomes] |
| rs6821318 | 0.83[EUR][1000 genomes] |
| rs6842655 | 0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs7437801 | 0.85[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7657718 | 0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7672506 | 0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7679197 | 0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7679226 | 0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs7679871 | 0.86[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7687837 | 0.89[EUR][1000 genomes] |
| rs9291424 | 0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs929961 | 0.88[EUR][1000 genomes] |
| rs964613 | 0.95[EUR][1000 genomes];0.97[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 | nsv1014941 | chr4:20611726-21345226 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 2 | nsv537053 | chr4:20611726-21345226 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
| 3 | nsv1013365 | chr4:20834054-21609078 | Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 4 gene(s) | inside rSNPs | diseases |
| 4 | nsv1002610 | chr4:21192993-21261812 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:21243200-21246600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
| 2 | chr4:21246200-21247800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
