Variant report
Variant | rs7553260 |
---|---|
Chromosome Location | chr1:72129917-72129918 |
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 | chr1:72129396..72131726-chr1:72132350..72134861,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10493487 | 1.00[CEU][hapmap];1.00[YRI][hapmap] |
rs10889922 | 0.82[EUR][1000 genomes] |
rs11209807 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11209808 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs11209809 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11209810 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs11209812 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12058754 | 1.00[YRI][hapmap] |
rs12060036 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12061421 | 1.00[CEU][hapmap];0.90[YRI][hapmap] |
rs12061960 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12062322 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs12073464 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs12077327 | 1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs12079835 | 1.00[CEU][hapmap];0.87[EUR][1000 genomes] |
rs12082706 | 1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs1335003 | 1.00[CEU][hapmap];0.82[YRI][hapmap] |
rs17091539 | 1.00[CEU][hapmap];1.00[YRI][hapmap] |
rs17091550 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs17091556 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs17091559 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs1932179 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs1981072 | 1.00[CEU][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs1981073 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs4288546 | 1.00[CEU][hapmap];1.00[YRI][hapmap] |
rs55645049 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs58151153 | 0.82[EUR][1000 genomes] |
rs60035899 | 0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs74088522 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs74088530 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs74088531 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs74088533 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs74088548 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs7538331 | 1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs870734 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs9943152 | 1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |

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 | nsv1007250 | chr1:71998391-72350683 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | nsv534992 | chr1:71998391-72350683 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
4 | nsv948821 | chr1:72049987-72477221 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
5 | nsv1003446 | chr1:72060680-72419918 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | nsv461884 | chr1:72077549-72238691 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
7 | nsv546476 | chr1:72077549-72238691 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
8 | nsv461895 | chr1:72079898-72206799 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
9 | nsv546477 | chr1:72079898-72206799 | ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
10 | nsv1006188 | chr1:72081620-72215373 | Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
11 | nsv534993 | chr1:72081620-72215373 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
12 | nsv817447 | chr1:72098815-72558020 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
13 | nsv1008210 | chr1:72099161-72374197 | ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
14 | nsv871330 | chr1:72104447-72140399 | Enhancers Weak transcription Flanking Active TSS Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
15 | nsv533779 | chr1:72124095-72241965 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:72124000-72130400 | Weak transcription | Pancreatic Islets | Pancreatic Islet |
2 | chr1:72126200-72130600 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
3 | chr1:72126400-72130400 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
4 | chr1:72129800-72130200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |