Variant report
Variant | rs72748623 |
---|---|
Chromosome Location | chr5:41979788-41979789 |
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 | chr5:41978267..41980483-chr5:41985241..41987652,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10035434 | 0.83[EUR][1000 genomes] |
rs10040757 | 0.83[EUR][1000 genomes] |
rs10043326 | 0.83[EUR][1000 genomes] |
rs10043371 | 0.83[EUR][1000 genomes] |
rs10044526 | 0.91[EUR][1000 genomes] |
rs10045473 | 0.83[EUR][1000 genomes] |
rs10051322 | 0.83[EUR][1000 genomes] |
rs10052226 | 0.83[EUR][1000 genomes] |
rs10053522 | 0.83[EUR][1000 genomes] |
rs10054130 | 0.83[EUR][1000 genomes] |
rs10057546 | 0.83[EUR][1000 genomes] |
rs10057587 | 0.83[EUR][1000 genomes] |
rs10057645 | 0.83[EUR][1000 genomes] |
rs10059424 | 0.81[EUR][1000 genomes] |
rs10060170 | 0.83[EUR][1000 genomes] |
rs10062703 | 0.83[EUR][1000 genomes] |
rs10064298 | 0.83[EUR][1000 genomes] |
rs10065016 | 0.83[EUR][1000 genomes] |
rs10065335 | 0.83[EUR][1000 genomes] |
rs10069638 | 0.83[EUR][1000 genomes] |
rs10070201 | 0.83[EUR][1000 genomes] |
rs10075429 | 0.83[EUR][1000 genomes] |
rs10076689 | 0.83[EUR][1000 genomes] |
rs10079651 | 0.83[EUR][1000 genomes] |
rs10472357 | 0.83[EUR][1000 genomes] |
rs10473252 | 0.83[EUR][1000 genomes] |
rs10473255 | 0.83[EUR][1000 genomes] |
rs11738449 | 0.91[EUR][1000 genomes] |
rs11738956 | 0.86[AMR][1000 genomes] |
rs11742939 | 0.91[EUR][1000 genomes] |
rs11745460 | 0.83[EUR][1000 genomes] |
rs11745530 | 0.83[EUR][1000 genomes] |
rs11746530 | 0.83[EUR][1000 genomes] |
rs11747648 | 0.83[EUR][1000 genomes] |
rs11748933 | 0.83[EUR][1000 genomes] |
rs13355194 | 0.83[EUR][1000 genomes] |
rs13357951 | 0.83[EUR][1000 genomes] |
rs13358459 | 0.83[EUR][1000 genomes] |
rs13360765 | 0.94[EUR][1000 genomes] |
rs1567323 | 0.83[EUR][1000 genomes] |
rs16872052 | 0.83[EUR][1000 genomes] |
rs16872094 | 0.91[EUR][1000 genomes] |
rs16872097 | 0.91[EUR][1000 genomes] |
rs16872099 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs16872100 | 0.88[EUR][1000 genomes] |
rs16872111 | 0.88[EUR][1000 genomes] |
rs16872114 | 0.91[EUR][1000 genomes] |
rs17339188 | 0.83[EUR][1000 genomes] |
rs1813615 | 0.91[EUR][1000 genomes] |
rs1813616 | 0.91[EUR][1000 genomes] |
rs2011105 | 0.91[EUR][1000 genomes] |
rs2113053 | 1.00[EUR][1000 genomes] |
rs2161581 | 0.91[EUR][1000 genomes] |
rs2231910 | 0.83[EUR][1000 genomes] |
rs28647448 | 0.83[EUR][1000 genomes] |
rs34493032 | 0.83[EUR][1000 genomes] |
rs35890705 | 0.83[EUR][1000 genomes] |
rs4957178 | 0.83[EUR][1000 genomes] |
rs4957180 | 0.83[EUR][1000 genomes] |
rs4957182 | 0.94[EUR][1000 genomes] |
rs4957436 | 0.83[EUR][1000 genomes] |
rs4957437 | 0.83[EUR][1000 genomes] |
rs4957438 | 0.83[EUR][1000 genomes] |
rs59778370 | 0.87[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs6870241 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs72746928 | 0.90[AMR][1000 genomes] |
rs72746930 | 0.81[AFR][1000 genomes];0.90[AMR][1000 genomes] |
rs72746933 | 0.90[AMR][1000 genomes] |
rs72746952 | 0.81[AFR][1000 genomes];0.90[AMR][1000 genomes] |
rs72746962 | 0.81[AFR][1000 genomes];0.90[AMR][1000 genomes] |
rs72746968 | 0.90[AMR][1000 genomes] |
rs72746975 | 0.81[AFR][1000 genomes];0.90[AMR][1000 genomes] |
rs72746985 | 0.83[EUR][1000 genomes] |
rs72746995 | 0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs72746999 | 0.83[EUR][1000 genomes] |
rs72747000 | 0.83[EUR][1000 genomes] |
rs72747001 | 0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs72747002 | 0.83[EUR][1000 genomes] |
rs72748607 | 0.83[EUR][1000 genomes] |
rs72748608 | 0.83[EUR][1000 genomes] |
rs72748609 | 0.83[EUR][1000 genomes] |
rs72748611 | 0.83[EUR][1000 genomes] |
rs72748613 | 0.83[EUR][1000 genomes] |
rs72748614 | 0.83[EUR][1000 genomes] |
rs72748616 | 0.83[EUR][1000 genomes] |
rs72748619 | 0.83[EUR][1000 genomes] |
rs72748620 | 0.83[EUR][1000 genomes] |
rs72748626 | 0.86[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs72748630 | 0.86[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs72748631 | 0.95[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs72748633 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs72748635 | 0.91[EUR][1000 genomes] |
rs72748636 | 0.91[EUR][1000 genomes] |
rs72748638 | 0.91[EUR][1000 genomes] |
rs72748639 | 0.91[EUR][1000 genomes] |
rs72748641 | 0.91[EUR][1000 genomes] |
rs72748645 | 0.91[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs72748646 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs7341062 | 0.83[EUR][1000 genomes] |
rs7705184 | 0.86[AFR][1000 genomes] |
rs7712106 | 0.83[EUR][1000 genomes] |
rs7723992 | 0.83[EUR][1000 genomes] |
rs9292832 | 0.83[EUR][1000 genomes] |
rs9885033 | 0.83[EUR][1000 genomes] |
rs9885117 | 0.83[EUR][1000 genomes] |
rs989747 | 0.91[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv830272 | chr5:41833365-41986167 | Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 111 gene(s) | inside rSNPs | diseases |
2 | nsv830273 | chr5:41867296-42066070 | Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 111 gene(s) | inside rSNPs | diseases |
3 | nsv933208 | chr5:41879946-42876624 | Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 112 gene(s) | inside rSNPs | diseases |
4 | nsv492147 | chr5:41902086-42896162 | Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 113 gene(s) | inside rSNPs | diseases |
5 | nsv880627 | chr5:41966551-42087954 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr5:41978800-41979800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
2 | chr5:41979000-41979800 | Enhancers | HSMMtube | muscle |
3 | chr5:41979400-41979800 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
4 | chr5:41979600-41980000 | Enhancers | Aorta | Aorta |