Variant report
| Variant | rs8101572 |
|---|---|
| Chromosome Location | chr19:51423628-51423629 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:51301575..51303234-chr19:51421604..51423920,2 | K562 | blood: | |
| 2 | chr19:51418343..51421900-chr19:51422458..51425721,3 | K562 | blood: | |
| 3 | chr19:51411727..51414183-chr19:51423578..51426767,3 | K562 | blood: | |
| 4 | chr19:51294402..51296118-chr19:51423536..51425330,2 | K562 | blood: | |
| 5 | chr19:51420400..51421939-chr19:51423500..51425721,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000167749 | Chromatin interaction |
| ENSG00000221241 | Chromatin interaction |
| ENSG00000221381 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs10401844 | 0.80[EUR][1000 genomes] |
| rs1532902 | 0.83[EUR][1000 genomes] |
| rs1532903 | 0.83[EUR][1000 genomes] |
| rs1532904 | 0.83[EUR][1000 genomes] |
| rs1701933 | 0.91[YRI][hapmap] |
| rs2659079 | 0.83[ASW][hapmap];0.91[YRI][hapmap] |
| rs268917 | 0.96[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes] |
| rs268919 | 0.91[EUR][1000 genomes] |
| rs268921 | 1.00[JPT][hapmap] |
| rs268922 | 0.92[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6509501 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7254626 | 0.91[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes] |
| rs7255201 | 0.81[EUR][1000 genomes] |
| rs7258794 | 0.80[AMR][1000 genomes];0.90[EUR][1000 genomes] |
| rs8100631 | 0.91[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes] |
| rs870361 | 0.82[GIH][hapmap] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv1060760 | chr19:50883425-51463712 | ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 99 gene(s) | inside rSNPs | diseases |
| 2 | nsv1058177 | chr19:50984774-51463712 | Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 84 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:51420000-51425000 | Weak transcription | ES-UCSF4 Cell Line | embryonic stem cell |
