Variant report
| Variant | rs1372944 |
|---|---|
| Chromosome Location | chr18:28063863-28063864 |
| allele | C/T |
| 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 | chr18:28059319..28061879-chr18:28063382..28065057,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:11)
| rs_ID | r2[population] |
|---|---|
| rs11663154 | 0.85[EUR][1000 genomes] |
| rs11663155 | 0.84[AMR][1000 genomes];0.96[EUR][1000 genomes] |
| rs12606961 | 0.83[ASN][1000 genomes] |
| rs16948175 | 0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs60323122 | 0.82[ASN][1000 genomes] |
| rs73413774 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs73413777 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs8090637 | 0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9304558 | 0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9304559 | 0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs9963126 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page:
1
| 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 |
mRNA abundance (count:3)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs1372944 | DSG3 | cis | cerebellum | SCAN |
| rs1372944 | TAF4B | cis | parietal | SCAN |
| rs1372944 | DSC1 | cis | parietal | SCAN |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:28062200-28065000 | Weak transcription | HMEC | breast |
