Variant report
| Variant | rs9358312 |
|---|---|
| Chromosome Location | chr6:20226070-20226071 |
| 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:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr6:20212162..20214669-chr6:20223184..20226435,3 | K562 | blood: | |
| 2 | chr6:20212250..20215196-chr6:20223985..20227837,5 | K562 | blood: | |
| 3 | chr6:20216776..20219690-chr6:20224982..20227317,2 | MCF-7 | breast: | |
| 4 | chr6:20220736..20222285-chr6:20225586..20228558,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000227803 | Chromatin interaction |
| ENSG00000172197 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:7)
| rs_ID | r2[population] |
|---|---|
| rs1077919 | 0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1077920 | 0.84[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs1536580 | 1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.95[ASN][1000 genomes] |
| rs1536581 | 1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes] |
| rs6928120 | 0.83[AMR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9350222 | 0.95[ASN][1000 genomes] |
| rs9350223 | 1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 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 | nsv1029729 | chr6:20113226-20235122 | Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 2 | nsv538155 | chr6:20113226-20235122 | Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv1027355 | chr6:20207893-20261048 | Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 4 | nsv1027220 | chr6:20213667-20258103 | Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| 5 | nsv1028657 | chr6:20215081-20258103 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr6:20222200-20233400 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
