Variant report
| Variant | rs34457218 |
|---|---|
| Chromosome Location | chr5:50333866-50333867 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr5:50333550..50335728-chr5:50344453..50346313,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs10472113 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs13358185 | 0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs2069021 | 0.94[ASN][1000 genomes] |
| rs2961805 | 0.85[ASN][1000 genomes] |
| rs2961812 | 0.94[ASN][1000 genomes] |
| rs2961813 | 0.91[ASN][1000 genomes] |
| rs2961814 | 0.91[ASN][1000 genomes] |
| rs2961815 | 0.91[ASN][1000 genomes] |
| rs2961833 | 0.91[ASN][1000 genomes] |
| rs2961834 | 0.91[ASN][1000 genomes] |
| rs2962249 | 0.94[ASN][1000 genomes] |
| rs2962250 | 0.94[ASN][1000 genomes] |
| rs2962251 | 0.94[ASN][1000 genomes] |
| rs2962252 | 0.94[ASN][1000 genomes] |
| rs2962256 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes] |
| rs2962258 | 0.84[ASN][1000 genomes] |
| rs55655243 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs62365360 | 0.98[ASN][1000 genomes] |
| rs62365368 | 0.98[ASN][1000 genomes] |
| rs62365371 | 0.94[ASN][1000 genomes] |
| rs62368785 | 0.98[ASN][1000 genomes] |
| rs6450535 | 0.91[ASN][1000 genomes] |
| rs73752825 | 0.98[ASN][1000 genomes] |
| rs7445634 | 0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs7720791 | 0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs9292204 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[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 | nsv1034445 | chr5:49986171-50492609 | Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv830286 | chr5:50165805-50374600 | Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 3 | nsv1018897 | chr5:50284474-50344007 | Enhancers Active TSS Weak transcription | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| 4 | nsv537762 | chr5:50284474-50344007 | Enhancers Weak transcription Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:50330800-50334200 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
| 2 | chr5:50333400-50335200 | Enhancers | iPS-15b Cell Line | embryonic stem cell |
