Variant report
| Variant | rs11083517 |
|---|---|
| Chromosome Location | chr19:39704878-39704879 |
| allele | A/G |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr19:39703112..39705306-chr19:39710340..39712292,2 | K562 | blood: | |
| 2 | chr19:39699114..39701619-chr19:39703320..39705265,2 | K562 | blood: | |
| 3 | chr19:39703124..39705684-chr19:39814866..39817784,2 | K562 | blood: | |
| 4 | chr19:39703124..39706234-chr19:39814866..39817784,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs11083515 | 0.89[AFR][1000 genomes] |
| rs11083516 | 0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs11883201 | 0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs11883239 | 0.87[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs12463249 | 0.92[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12974074 | 0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs12975799 | 0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12981390 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs35408086 | 0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs7245516 | 0.94[ASN][1000 genomes] |
| rs8107090 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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 | nsv833829 | chr19:39569681-39730777 | Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| 2 | nsv432048 | chr19:39572060-39850060 | Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
| 3 | esv1796470 | chr19:39679379-39714631 | Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 7 gene(s) | inside rSNPs | diseases |
| 4 | nsv518540 | chr19:39697974-39731783 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh | TF binding regionChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr19:39699200-39705600 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
