Variant report
| Variant | rs72931208 |
|---|---|
| Chromosome Location | chr1:70853496-70853497 |
| 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 | chr1:70851928..70854064-chr1:70875017..70878016,3 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000116761 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:25)
| rs_ID | r2[population] |
|---|---|
| rs11803222 | 1.00[EUR][1000 genomes] |
| rs17131260 | 1.00[EUR][1000 genomes] |
| rs17131261 | 0.87[AFR][1000 genomes] |
| rs17131275 | 0.83[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131277 | 0.88[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131278 | 0.88[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131280 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131282 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131286 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131287 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131288 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131289 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs17131292 | 0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs57217591 | 1.00[AMR][1000 genomes] |
| rs58518248 | 1.00[AMR][1000 genomes] |
| rs59320305 | 1.00[AMR][1000 genomes] |
| rs59856193 | 1.00[EUR][1000 genomes] |
| rs6413468 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72914697 | 0.88[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72914698 | 0.88[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72916616 | 0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72916621 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72929301 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs72931203 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs7549628 | 0.83[AFR][1000 genomes];1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv999219 | chr1:70730556-71014911 | Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 49 gene(s) | inside rSNPs | diseases |
| 2 | nsv830137 | chr1:70765921-70958718 | Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 48 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
