Variant report
| Variant | rs4048519 |
|---|---|
| Chromosome Location | chr1:58816342-58816343 |
| 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 | chr1:58815555..58817828-chr1:58819900..58822512,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:30)
| rs_ID | r2[population] |
|---|---|
| rs10133282 | 0.96[EUR][1000 genomes] |
| rs10136230 | 1.00[EUR][1000 genomes] |
| rs10139500 | 0.90[EUR][1000 genomes] |
| rs10142102 | 1.00[EUR][1000 genomes] |
| rs10144588 | 0.81[EUR][1000 genomes] |
| rs10144818 | 0.91[EUR][1000 genomes] |
| rs10144926 | 0.89[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs10148586 | 0.99[EUR][1000 genomes] |
| rs10150707 | 0.96[EUR][1000 genomes] |
| rs10873230 | 1.00[EUR][1000 genomes] |
| rs11844845 | 0.96[EUR][1000 genomes] |
| rs12588623 | 0.98[EUR][1000 genomes] |
| rs2332415 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs2332417 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs2877657 | 0.96[EUR][1000 genomes] |
| rs2877669 | 0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs55728800 | 0.98[EUR][1000 genomes] |
| rs57535767 | 0.99[EUR][1000 genomes] |
| rs58186506 | 0.91[EUR][1000 genomes] |
| rs6573949 | 0.99[EUR][1000 genomes] |
| rs67203490 | 1.00[EUR][1000 genomes] |
| rs7141636 | 0.91[EUR][1000 genomes] |
| rs7141694 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs7148445 | 1.00[EUR][1000 genomes] |
| rs8005522 | 0.98[EUR][1000 genomes] |
| rs8014179 | 0.91[EUR][1000 genomes] |
| rs8014459 | 1.00[EUR][1000 genomes] |
| rs8016520 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs9323536 | 0.99[EUR][1000 genomes] |
| rs9630398 | 0.89[AMR][1000 genomes];1.00[EUR][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 | nsv1008968 | chr1:58582159-58982440 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv534974 | chr1:58582159-58982440 | Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv1010188 | chr1:58802487-58837012 | Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
| 4 | nsv829948 | chr1:58803681-58971380 | Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers | Chromatin interactive regionlncRNAmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:58811800-58823200 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
