Variant report
Variant | rs9989594 |
---|---|
Chromosome Location | chr18:28072355-28072356 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10468899 | 0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1348337 | 0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1372945 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1442996 | 0.89[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs2034053 | 0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs62078270 | 0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6508690 | 0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs7243927 | 0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs8089627 | 0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9954144 | 0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9956723 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs9962285 | 0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9989591 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1057946 | chr18:27239754-28146129 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription | Chromatin interactive regionlncRNAmiRNA | 1 gene(s) | inside rSNPs | diseases |
2 | nsv576600 | chr18:27423375-28197518 | Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers | Chromatin interactive regionlncRNAmiRNA | 1 gene(s) | inside rSNPs | diseases |
3 | esv34009 | chr18:27957966-28115014 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
4 | nsv909512 | chr18:28066601-28101661 | Enhancers Weak transcription Genic enhancers ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | nsv909513 | chr18:28069559-28114958 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | esv2542717 | chr18:28069579-28072778 | Weak transcription Enhancers Genic enhancers | n/a | n/a | inside rSNPs | diseases |
7 | esv3426386 | chr18:28069804-28072377 | Enhancers Weak transcription Genic enhancers | n/a | n/a | inside rSNPs | diseases |
8 | esv3340470 | chr18:28070104-28072752 | Enhancers Weak transcription Genic enhancers | n/a | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr18:28066800-28073800 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
2 | chr18:28070200-28073800 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |