Variant report
| Variant | rs16828504 |
|---|---|
| Chromosome Location | chr2:187797200-187797201 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:5)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:5 , 50 per page) page:
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| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr2:187791572..187794519-chr2:187795628..187797997,3 | K562 | blood: | |
| 2 | chr2:187796666..187799703-chr2:187803922..187806402,3 | K562 | blood: | |
| 3 | chr2:187789357..187791751-chr2:187795665..187797300,2 | K562 | blood: | |
| 4 | chr2:187352381..187355320-chr2:187796236..187797798,2 | K562 | blood: | |
| 5 | chr2:187794293..187797708-chr2:187800463..187803192,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000224323 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:16)
| rs_ID | r2[population] |
|---|---|
| rs16823870 | 1.00[AMR][1000 genomes] |
| rs16828604 | 1.00[AMR][1000 genomes] |
| rs16828670 | 1.00[AMR][1000 genomes] |
| rs56660656 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs57108035 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs58719230 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs61342107 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73039831 | 1.00[AMR][1000 genomes] |
| rs73039853 | 1.00[AMR][1000 genomes] |
| rs73041530 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73041541 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73041542 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73041546 | 1.00[AMR][1000 genomes] |
| rs73043611 | 1.00[AMR][1000 genomes] |
| rs73043628 | 1.00[AMR][1000 genomes] |
| rs73043629 | 1.00[AMR][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 | nsv949700 | chr2:187713412-188361211 | Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 8 gene(s) | inside rSNPs | diseases |
| 2 | nsv528437 | chr2:187778830-187907901 | Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 3 | nsv999207 | chr2:187787121-187924667 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv536084 | chr2:187787121-187924667 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:187796200-187797400 | Enhancers | K562 | blood |
