Variant report
| Variant | rs2823048 |
|---|---|
| Chromosome Location | chr21:16462268-16462269 |
| allele | A/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:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr21:16436499..16439825-chr21:16461249..16466318,5 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000236471 | Chromatin interaction |
| ENSG00000180530 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:8)
| rs_ID | r2[population] |
|---|---|
| rs2094861 | 0.96[EUR][1000 genomes] |
| rs2823043 | 0.96[EUR][1000 genomes] |
| rs2823053 | 0.90[CEU][hapmap];0.88[GIH][hapmap];0.85[MEX][hapmap];0.91[EUR][1000 genomes] |
| rs55699117 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs57567605 | 0.82[EUR][1000 genomes] |
| rs73174568 | 0.90[EUR][1000 genomes] |
| rs73174573 | 0.89[EUR][1000 genomes] |
| rs9977431 | 0.93[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 | nsv834048 | chr21:16324481-16489570 | Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 19 gene(s) | inside rSNPs | diseases |
| 2 | nsv587050 | chr21:16413682-16462268 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv1059303 | chr21:16423727-16466112 | Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
| 4 | nsv544379 | chr21:16423727-16466112 | Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
Variant related diseases (count:1)
| Disease | PMID | Source |
|---|---|---|
| Allergic rhinitis in non-asthmatics | 25085501 | GWAS catalog |
Chromatin state (count:0 , 50 per page) page:
| No data |
