Variant report
| Variant | rs11115624 |
|---|---|
| Chromosome Location | chr12:83557190-83557191 |
| allele | C/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr12:83542880..83544504-chr12:83556939..83559437,2 | K562 | blood: | |
| 2 | chr12:83551485..83553792-chr12:83556575..83559137,3 | K562 | blood: | |
| 3 | chr12:83554178..83558024-chr12:83564818..83567796,3 | K562 | blood: | |
| 4 | chr12:83549123..83550783-chr12:83557116..83558963,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000258338 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:9)
| rs_ID | r2[population] |
|---|---|
| rs10862596 | 0.84[EUR][1000 genomes] |
| rs11115625 | 0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11115628 | 0.82[AMR][1000 genomes] |
| rs12314255 | 0.87[EUR][1000 genomes] |
| rs17010687 | 0.93[EUR][1000 genomes] |
| rs4394896 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs4408372 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs58277973 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs73139735 | 0.82[AMR][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 | nsv521849 | chr12:83013783-83991479 | Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv559559 | chr12:83505512-83765069 | ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv899352 | chr12:83556258-83671428 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | n/a |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
