Variant report
| Variant | rs6093550 |
|---|---|
| Chromosome Location | chr20:40630715-40630716 |
| allele | C/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:1)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:1 , 50 per page) page:
1
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr20:40625261..40628055-chr20:40628538..40631191,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000223651 | TF binding region |
| ENSG00000223651 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs2866988 | 0.82[EUR][1000 genomes] |
| rs6093551 | 0.90[EUR][1000 genomes] |
| rs6102616 | 0.82[EUR][1000 genomes] |
| rs6129989 | 0.84[ASN][1000 genomes] |
| rs6129992 | 0.85[ASN][1000 genomes] |
| rs6129993 | 0.81[ASN][1000 genomes] |
| rs6130001 | 0.86[ASN][1000 genomes] |
| rs6130003 | 0.89[ASN][1000 genomes] |
| rs6513754 | 0.82[EUR][1000 genomes] |
| rs73113854 | 0.84[EUR][1000 genomes] |
| rs73113856 | 0.84[EUR][1000 genomes] |
| rs73113859 | 0.84[EUR][1000 genomes] |
| rs73113864 | 0.84[EUR][1000 genomes] |
| rs73113865 | 0.84[EUR][1000 genomes] |
| rs73122800 | 0.82[EUR][1000 genomes] |
| rs73124713 | 0.82[EUR][1000 genomes] |
| rs73124714 | 0.82[EUR][1000 genomes] |
| rs73124722 | 0.82[EUR][1000 genomes] |
| rs73124730 | 0.82[EUR][1000 genomes] |
| rs8120362 | 0.82[EUR][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 | nsv3381 | chr20:39925326-40765696 | Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 34 gene(s) | inside rSNPs | diseases |
| 2 | esv2751913 | chr20:40422982-41269321 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
| 3 | nsv532516 | chr20:40451059-41097155 | Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 4 | nsv912873 | chr20:40601021-40675704 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr20:40625400-40631800 | Weak transcription | Right Atrium | heart |
