Variant report
| Variant | rs56198310 |
|---|---|
| Chromosome Location | chr5:111487398-111487399 |
| 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 | chr5:111485629..111487985-chr5:111496588..111499466,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000224032 | Chromatin interaction |
| ENSG00000238363 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs149385 | 1.00[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs17134157 | 1.00[EUR][1000 genomes] |
| rs17319480 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17319543 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs173584 | 0.87[EUR][1000 genomes] |
| rs30284 | 0.87[EUR][1000 genomes] |
| rs30289 | 1.00[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs30290 | 0.87[EUR][1000 genomes] |
| rs30291 | 0.87[EUR][1000 genomes] |
| rs30292 | 0.87[EUR][1000 genomes] |
| rs30293 | 0.87[EUR][1000 genomes] |
| rs376888 | 0.87[EUR][1000 genomes] |
| rs42484 | 0.87[EUR][1000 genomes] |
| rs459921 | 0.87[EUR][1000 genomes] |
| rs466009 | 1.00[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs56071484 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs922430 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv599367 | chr5:110924280-111602713 | Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
| 2 | nsv1015302 | chr5:111339022-111802947 | Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 3 | nsv537861 | chr5:111339022-111802947 | Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 26 gene(s) | inside rSNPs | diseases |
| 4 | nsv599368 | chr5:111399885-112032675 | Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 35 gene(s) | inside rSNPs | diseases |
| 5 | nsv948869 | chr5:111476404-111695183 | Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 24 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
