Variant report
| Variant | rs72934460 |
|---|---|
| Chromosome Location | chr1:70009239-70009240 |
| allele | C/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 | chr1:70008186..70010677-chr1:70018609..70020421,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:10)
| rs_ID | r2[population] |
|---|---|
| rs17130981 | 1.00[EUR][1000 genomes] |
| rs60582277 | 1.00[EUR][1000 genomes] |
| rs72934427 | 0.89[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72934445 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72934446 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72934447 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72934448 | 0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs72934450 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7516848 | 0.94[AFR][1000 genomes];1.00[EUR][1000 genomes] |
| rs7531804 | 1.00[EUR][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv949691 | chr1:69749722-70302201 | Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 2 | esv3384194 | chr1:69885024-70275430 | Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 3 | esv1805388 | chr1:69996616-70019811 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 4 | esv1807543 | chr1:69996616-70019811 | Enhancers Active TSS Weak transcription Flanking Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 5 | esv1809423 | chr1:69996616-70019811 | Weak transcription Active TSS Flanking Active TSS Enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| 6 | esv1810945 | chr1:69996616-70019811 | Enhancers Flanking Active TSS Weak transcription Active TSS | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:70007400-70011000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
