Variant report
Variant | rs72938946 |
---|---|
Chromosome Location | chr1:70133677-70133678 |
allele | A/C |
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 | chr1:70127107..70129282-chr1:70132209..70134675,3 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs34176344 | 1.00[AMR][1000 genomes] |
rs57703717 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs58099669 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs58877660 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs59878053 | 1.00[AMR][1000 genomes] |
rs60213737 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72934430 | 1.00[AMR][1000 genomes] |
rs72934431 | 1.00[AMR][1000 genomes] |
rs72934438 | 1.00[AMR][1000 genomes] |
rs72934441 | 1.00[AMR][1000 genomes] |
rs72934459 | 1.00[AMR][1000 genomes] |
rs72934498 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72934502 | 1.00[AFR][1000 genomes] |
rs72936507 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72936520 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72936533 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72936588 | 1.00[AFR][1000 genomes] |
rs72936595 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72938926 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72938944 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72938951 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |
rs72938953 | 1.00[AMR][1000 genomes] |
rs72938959 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes] |

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 | nsv830126 | chr1:70014879-70167979 | Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
4 | esv2764189 | chr1:70111889-70137513 | Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:70132600-70135200 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |