Variant report
| Variant | rs6517485 |
|---|---|
| Chromosome Location | chr21:40254823-40254824 |
| allele | C/T |
| 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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr21:40253690..40256394-chr21:40265438..40267658,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000227721 | Chromatin interaction |
| ENSG00000272015 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs13050863 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs1475592 | 0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs1785432 | 0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs2150409 | 0.87[ASN][1000 genomes] |
| rs2210265 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs2836723 | 0.81[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2836725 | 0.82[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2836726 | 0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs2836742 | 0.82[AMR][1000 genomes];0.82[ASN][1000 genomes] |
| rs455152 | 0.83[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs463442 | 0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs464093 | 0.81[AMR][1000 genomes];0.87[ASN][1000 genomes] |
| rs467788 | 0.85[ASN][1000 genomes] |
| rs468042 | 0.85[ASN][1000 genomes] |
| rs468637 | 0.85[ASN][1000 genomes] |
| rs469031 | 0.85[ASN][1000 genomes] |
| rs469043 | 0.85[ASN][1000 genomes] |
| rs469368 | 0.85[ASN][1000 genomes] |
| rs4816606 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs4816607 | 0.86[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs8133009 | 0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs992242 | 0.81[AMR][1000 genomes];0.87[ASN][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 | nsv1062425 | chr21:40172471-40380976 | Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 47 gene(s) | inside rSNPs | diseases |
| 2 | nsv544442 | chr21:40172471-40380976 | Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 47 gene(s) | inside rSNPs | diseases |
| 3 | nsv587477 | chr21:40228920-40512004 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' | TF binding regionChromatin interactive regionlncRNA | 35 gene(s) | inside rSNPs | diseases |
| 4 | nsv587478 | chr21:40243459-40275033 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr21:40247800-40259400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
