Variant report
| Variant | rs1484148 |
|---|---|
| Chromosome Location | chr4:80312846-80312847 |
| 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 | chr4:79963382..79963898-chr4:80312179..80313004,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:27)
| rs_ID | r2[population] |
|---|---|
| rs10000485 | 0.97[EUR][1000 genomes] |
| rs10004440 | 0.94[EUR][1000 genomes] |
| rs10050068 | 0.86[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs11733010 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs1484149 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs1601201 | 0.84[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs1601202 | 0.91[EUR][1000 genomes] |
| rs17003721 | 0.98[EUR][1000 genomes] |
| rs17003742 | 0.86[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17003744 | 0.86[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17003746 | 0.86[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17003747 | 0.86[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17003748 | 0.87[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs17003749 | 0.87[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28432328 | 0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs28446667 | 0.86[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs28516921 | 0.93[EUR][1000 genomes] |
| rs28524479 | 0.86[AMR][1000 genomes];0.95[ASN][1000 genomes] |
| rs28619382 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs28704148 | 0.87[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs28796992 | 0.97[EUR][1000 genomes] |
| rs2903619 | 0.89[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs4975046 | 0.91[EUR][1000 genomes] |
| rs4975085 | 0.80[AMR][1000 genomes];0.93[EUR][1000 genomes] |
| rs6818904 | 0.97[EUR][1000 genomes] |
| rs6823996 | 0.97[EUR][1000 genomes] |
| rs9992718 | 0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv999174 | chr4:80212935-80512356 | Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 2 | esv3432913 | chr4:80274683-80416584 | Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:80312800-80313000 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
