Variant report
| Variant | rs12067577 |
|---|---|
| Chromosome Location | chr1:70004473-70004474 |
| allele | G/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:6 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:69990471..69992638-chr1:70002078..70005034,2 | K562 | blood: | |
| 2 | chr1:69995565..69997784-chr1:70003938..70005840,2 | K562 | blood: | |
| 3 | chr1:70004208..70005978-chr1:70011642..70014290,3 | K562 | blood: | |
| 4 | chr1:70001323..70007506-chr1:70017692..70021149,7 | K562 | blood: | |
| 5 | chr1:69934461..69936977-chr1:70003421..70005202,2 | K562 | blood: | |
| 6 | chr1:70002826..70005077-chr1:70006126..70009048,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:14)
| rs_ID | r2[population] |
|---|---|
| rs10889836 | 0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs10889837 | 0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1341788 | 0.81[AFR][1000 genomes] |
| rs1891221 | 0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs1935245 | 0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs6424551 | 0.86[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs6424552 | 0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7528888 | 0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7531225 | 0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7539998 | 0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7540187 | 0.85[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs7540901 | 0.84[ASN][1000 genomes] |
| rs7542641 | 0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs912774 | 0.81[AFR][1000 genomes];0.83[AMR][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 | chr1:70004400-70006400 | Enhancers | K562 | blood |
