Variant report
| Variant | rs6534441 |
|---|---|
| Chromosome Location | chr4:125415534-125415535 |
| 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 | chr4:125409869..125413013-chr4:125413773..125416008,3 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10034765 | 0.82[AFR][1000 genomes] |
| rs11946186 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs12651542 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs1388988 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1509525 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1567395 | 0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs1567396 | 0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs28548600 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs28733585 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs3106055 | 0.86[EUR][1000 genomes] |
| rs4833988 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs55698707 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs58568869 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs59780240 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6836758 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6846869 | 0.84[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6856045 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs6856467 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
| rs7670821 | 0.82[ASN][1000 genomes] |
| rs9993116 | 0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv868977 | chr4:124841128-125550637 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
| 2 | nsv879880 | chr4:125174817-125494547 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
| 3 | esv2760890 | chr4:125273456-125466931 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
| 4 | nsv879881 | chr4:125280852-125448288 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
Variant related diseases (count:1)
| Disease | PMID | Source |
|---|---|---|
| Major depressive disorder | 23377640 | GWAS catalog |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr4:125414400-125420200 | Weak transcription | Fetal Muscle Leg | muscle |
| 2 | chr4:125415400-125420200 | Weak transcription | Fetal Lung | lung |
