Variant report
| Variant | rs13227344 |
|---|---|
| Chromosome Location | chr7:126185982-126185983 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | 7:126177569-126189146..7:127225864-127233104 | GM12878 | blood: | |
| 2 | 7:126177569-126189146..7:127221502-127225864 | Hela-S3 | cervix: | |
| 3 | 7:126177569-126189146..7:127233104-127239235 | K562 | blood: | |
| 4 | 7:126177569-126189146..7:126756671-126761022 | K562 | blood: | |
| 5 | 7:126177569-126189146..7:127070190-127076279 | Hela-S3 | cervix: | |
| 6 | 7:126177569-126189146..7:126890676-126899918 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000179562 | Chromatin interaction |
| ENSG00000048405 | Chromatin interaction |
| ENSG00000179603 | Chromatin interaction |
| ENSG00000004059 | Chromatin interaction |
| ENSG00000106328 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11760596 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12538632 | 0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12671690 | 0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12706737 | 0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs13234319 | 0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs13241597 | 0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs13243112 | 0.81[ASN][1000 genomes] |
| rs1833071 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2073863 | 0.92[ASN][1000 genomes] |
| rs2299460 | 0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs2299492 | 0.81[ASN][1000 genomes] |
| rs34261190 | 0.81[ASN][1000 genomes] |
| rs36115890 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs36198401 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6467088 | 0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs6467089 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs6960925 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:7 , 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 | nsv529300 | chr7:125669493-126587858 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv1023465 | chr7:125873329-126191422 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 3 | nsv1028204 | chr7:125897362-126225444 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 4 | nsv539118 | chr7:125897362-126225444 | Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
| 5 | nsv1032938 | chr7:126067684-126587859 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 6 | nsv539119 | chr7:126067684-126587859 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
| 7 | nsv521803 | chr7:126149319-126219766 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr7:126176000-126188000 | Weak transcription | Left Ventricle | heart |
