Variant report
| Variant | rs73988830 |
|---|---|
| Chromosome Location | chr17:45858228-45858229 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr17:45855664..45858630-chr17:45860045..45864247,3 | K562 | blood: | |
| 2 | chr17:45857879..45859469-chr17:45866625..45868596,2 | K562 | blood: | |
| 3 | chr17:45857386..45859509-chr17:45915797..45918056,2 | MCF-7 | breast: | |
| 4 | chr17:45857831..45860289-chr17:45876780..45879686,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000141295 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs56239340 | 1.00[EUR][1000 genomes] |
| rs56346742 | 1.00[AFR][1000 genomes] |
| rs57483258 | 1.00[EUR][1000 genomes] |
| rs73319718 | 1.00[EUR][1000 genomes] |
| rs73985186 | 1.00[EUR][1000 genomes] |
| rs73985189 | 1.00[EUR][1000 genomes] |
| rs73988809 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73988811 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73988823 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs73988840 | 1.00[EUR][1000 genomes] |
| rs73988847 | 1.00[EUR][1000 genomes] |
| rs73988853 | 1.00[EUR][1000 genomes] |
| rs8066161 | 1.00[EUR][1000 genomes] |
| rs8071638 | 1.00[AMR][1000 genomes] |
| rs8075483 | 1.00[EUR][1000 genomes] |
| rs9675329 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv498122 | chr17:45763853-46064327 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 67 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
