Variant report
| Variant | rs57966484 |
|---|---|
| Chromosome Location | chr1:221830050-221830051 |
| allele | A/C |
| 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 | chr1:221828900..221831688-chr1:221913117..221915245,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:38)
| rs_ID | r2[population] |
|---|---|
| rs56740608 | 1.00[AMR][1000 genomes] |
| rs57715531 | 1.00[AMR][1000 genomes] |
| rs58446643 | 1.00[AFR][1000 genomes] |
| rs58909975 | 1.00[AMR][1000 genomes] |
| rs61101563 | 1.00[AFR][1000 genomes] |
| rs61692302 | 0.90[AFR][1000 genomes] |
| rs73108905 | 1.00[AMR][1000 genomes] |
| rs73108910 | 1.00[AMR][1000 genomes] |
| rs73108925 | 1.00[AMR][1000 genomes] |
| rs73108947 | 1.00[AMR][1000 genomes] |
| rs73108957 | 1.00[AMR][1000 genomes] |
| rs73115363 | 1.00[AMR][1000 genomes] |
| rs73115368 | 1.00[AMR][1000 genomes] |
| rs73115373 | 1.00[AMR][1000 genomes] |
| rs73115380 | 1.00[AMR][1000 genomes] |
| rs73115383 | 1.00[AMR][1000 genomes] |
| rs73117537 | 1.00[AMR][1000 genomes] |
| rs73117543 | 1.00[AMR][1000 genomes] |
| rs73117544 | 1.00[AMR][1000 genomes] |
| rs73117560 | 0.90[AFR][1000 genomes] |
| rs73117561 | 0.90[AFR][1000 genomes] |
| rs73117564 | 0.90[AFR][1000 genomes] |
| rs73117573 | 0.90[AFR][1000 genomes] |
| rs73117575 | 0.90[AFR][1000 genomes] |
| rs73117576 | 0.90[AFR][1000 genomes] |
| rs73119195 | 1.00[AFR][1000 genomes] |
| rs73121106 | 1.00[AFR][1000 genomes] |
| rs73121110 | 1.00[AFR][1000 genomes] |
| rs73121111 | 1.00[AFR][1000 genomes] |
| rs73121113 | 1.00[AFR][1000 genomes] |
| rs73121116 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73121119 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73121125 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs73123136 | 1.00[AMR][1000 genomes] |
| rs73123141 | 1.00[AMR][1000 genomes] |
| rs73123147 | 1.00[AMR][1000 genomes] |
| rs73123162 | 1.00[AMR][1000 genomes] |
| rs73123166 | 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 | nsv997685 | chr1:220993527-221863416 | Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 2 | nsv535299 | chr1:220993527-221863416 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
| 3 | nsv873200 | chr1:221644180-221843191 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| 4 | esv3340395 | chr1:221827809-221832266 | Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:221828200-221830400 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
| 2 | chr1:221829200-221830400 | Enhancers | K562 | blood |
