Variant report
| Variant | rs2567416 |
|---|---|
| Chromosome Location | chr1:71720921-71720922 |
| 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 | chr1:71545214..71547722-chr1:71720590..71722886,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000229956 | Chromatin interaction |
| ENSG00000132485 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:13)
| rs_ID | r2[population] |
|---|---|
| rs2639342 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2744910 | 1.00[AMR][1000 genomes] |
| rs2796191 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2796193 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2796194 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2796205 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes] |
| rs2817861 | 1.00[AMR][1000 genomes] |
| rs2817862 | 1.00[AMR][1000 genomes] |
| rs2817863 | 1.00[AMR][1000 genomes] |
| rs4146734 | 1.00[AMR][1000 genomes] |
| rs6424416 | 1.00[AMR][1000 genomes] |
| rs6424417 | 1.00[AMR][1000 genomes] |
| rs9425056 | 1.00[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 | nsv949599 | chr1:71655652-72327802 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 2 | nsv1005726 | chr1:71701840-71953242 | Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 3 | esv1848377 | chr1:71718838-71964514 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
| No data |
Chromatin state (count:0 , 50 per page) page:
| No data |
