Variant report
| Variant | rs74086984 |
|---|---|
| Chromosome Location | chr12:48507863-48507864 |
| allele | A/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 | chr12:48503414..48505504-chr12:48505942..48508291,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:29)
| rs_ID | r2[population] |
|---|---|
| rs55759881 | 0.83[AMR][1000 genomes] |
| rs55789595 | 0.83[AMR][1000 genomes] |
| rs55991805 | 1.00[AMR][1000 genomes] |
| rs57539024 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs58148022 | 0.83[AMR][1000 genomes] |
| rs58373242 | 0.84[AFR][1000 genomes];0.83[AMR][1000 genomes] |
| rs59051221 | 1.00[AMR][1000 genomes] |
| rs59643562 | 1.00[AMR][1000 genomes] |
| rs59787033 | 1.00[AMR][1000 genomes] |
| rs59896935 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs60001451 | 1.00[AMR][1000 genomes] |
| rs60316794 | 1.00[AMR][1000 genomes] |
| rs61558457 | 1.00[AMR][1000 genomes] |
| rs61750873 | 0.83[AMR][1000 genomes] |
| rs7316275 | 1.00[AMR][1000 genomes] |
| rs74086781 | 0.83[AMR][1000 genomes] |
| rs74086968 | 0.83[AMR][1000 genomes] |
| rs74089112 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs74089120 | 1.00[AMR][1000 genomes] |
| rs74089127 | 1.00[AMR][1000 genomes] |
| rs74089135 | 1.00[AMR][1000 genomes] |
| rs74089149 | 1.00[AMR][1000 genomes] |
| rs74089151 | 1.00[AMR][1000 genomes] |
| rs74089154 | 1.00[AMR][1000 genomes] |
| rs74089161 | 1.00[AMR][1000 genomes] |
| rs74089171 | 1.00[AMR][1000 genomes] |
| rs74089540 | 0.83[AMR][1000 genomes] |
| rs74089548 | 0.83[AMR][1000 genomes] |
| rs74089549 | 0.83[AMR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | esv2758307 | chr12:48429702-48825499 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 2 | esv2759898 | chr12:48429702-48825499 | Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 57 gene(s) | inside rSNPs | diseases |
| 3 | nsv508673 | chr12:48489786-48567138 | Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr12:48501000-48508800 | Weak transcription | K562 | blood |
| 2 | chr12:48501200-48512200 | Weak transcription | Duodenum Mucosa | Duodenum |
| 3 | chr12:48505200-48512000 | Weak transcription | Hela-S3 | cervix |
