Variant report
| Variant | rs7994578 |
|---|---|
| Chromosome Location | chr13:95348663-95348664 |
| allele | C/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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr13:95346410..95348738-chr13:95351880..95354346,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:26)
| rs_ID | r2[population] |
|---|---|
| rs12385866 | 0.81[ASN][1000 genomes] |
| rs1417733 | 0.89[ASN][1000 genomes] |
| rs1417734 | 0.89[ASN][1000 genomes] |
| rs1417735 | 0.81[ASN][1000 genomes] |
| rs1535648 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1535649 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17181892 | 0.81[ASN][1000 genomes] |
| rs1998502 | 0.82[ASN][1000 genomes] |
| rs2093689 | 0.97[ASN][1000 genomes] |
| rs4619266 | 0.85[ASN][1000 genomes] |
| rs55736178 | 0.97[ASN][1000 genomes] |
| rs61965636 | 0.85[ASN][1000 genomes] |
| rs61965639 | 0.95[ASN][1000 genomes] |
| rs7318373 | 0.81[ASN][1000 genomes] |
| rs7985588 | 0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs9556408 | 0.82[ASN][1000 genomes] |
| rs9556409 | 0.99[ASN][1000 genomes] |
| rs9556410 | 0.99[ASN][1000 genomes] |
| rs9561654 | 0.81[ASN][1000 genomes] |
| rs9561655 | 0.81[ASN][1000 genomes] |
| rs9561656 | 0.82[ASN][1000 genomes] |
| rs9561657 | 0.82[ASN][1000 genomes] |
| rs9561660 | 0.85[ASN][1000 genomes] |
| rs9561661 | 0.82[ASN][1000 genomes] |
| rs9561662 | 0.97[ASN][1000 genomes] |
| rs9584244 | 0.85[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
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| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv34004 | chr13:94906537-95392644 | Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 27 gene(s) | inside rSNPs | diseases |
| 2 | nsv832686 | chr13:95206742-95400992 | Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
| 3 | esv1813549 | chr13:95333331-95377127 | Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr13:95348400-95348800 | Enhancers | H9 Derived Neuron Cultured Cells | ES cell derived |
| 2 | chr13:95348400-95349000 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
