Variant report
| Variant | rs8112569 |
|---|---|
| Chromosome Location | chr19:42353774-42353775 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:42351673..42358248-chr19:42360570..42366998,12 | K562 | blood: | |
| 2 | chr19:42346423..42349202-chr19:42351468..42355829,7 | K562 | blood: | |
| 3 | chr19:42349297..42351967-chr19:42352906..42355134,2 | K562 | blood: | |
| 4 | chr19:42346706..42349091-chr19:42352503..42356782,5 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000142025 | Chromatin interaction |
| ENSG00000105372 | Chromatin interaction |
| ENSG00000183103 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs11878330 | 1.00[EUR][1000 genomes] |
| rs11878687 | 1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11879437 | 1.00[YRI][hapmap] |
| rs11879519 | 1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs11879631 | 1.00[EUR][1000 genomes] |
| rs11880522 | 1.00[EUR][1000 genomes] |
| rs11880579 | 1.00[EUR][1000 genomes] |
| rs11880977 | 0.82[YRI][hapmap] |
| rs11881323 | 0.91[YRI][hapmap];1.00[AMR][1000 genomes] |
| rs11881932 | 1.00[AMR][1000 genomes] |
| rs11881984 | 1.00[EUR][1000 genomes] |
| rs11883018 | 0.90[YRI][hapmap] |
| rs12327868 | 1.00[EUR][1000 genomes] |
| rs41301951 | 1.00[AMR][1000 genomes] |
| rs73932094 | 1.00[EUR][1000 genomes] |
| rs8103772 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv522854 | chr19:42120283-42931004 | Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 104 gene(s) | inside rSNPs | diseases |
| 2 | nsv1061878 | chr19:42325490-42416056 | Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 3 | nsv911776 | chr19:42343526-42416056 | Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 29 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:42352000-42363800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
