Variant report
| Variant | rs4836381 |
|---|---|
| Chromosome Location | chr5:127922270-127922271 |
| 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 | chr5:127919114..127923231-chr5:127925497..127928562,3 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:22)
| rs_ID | r2[population] |
|---|---|
| rs10060222 | 0.92[EUR][1000 genomes] |
| rs10073671 | 0.88[AFR][1000 genomes];0.99[EUR][1000 genomes] |
| rs10478816 | 0.88[AFR][1000 genomes];0.96[EUR][1000 genomes] |
| rs11241966 | 0.83[AMR][1000 genomes] |
| rs13185878 | 0.88[AFR][1000 genomes];0.96[EUR][1000 genomes] |
| rs1363467 | 0.92[EUR][1000 genomes] |
| rs1363470 | 0.92[EUR][1000 genomes] |
| rs3935200 | 0.88[AFR][1000 genomes];0.94[EUR][1000 genomes] |
| rs4240408 | 0.88[AFR][1000 genomes];0.96[EUR][1000 genomes] |
| rs4277962 | 0.81[AFR][1000 genomes];0.93[EUR][1000 genomes] |
| rs4331947 | 0.83[AMR][1000 genomes] |
| rs4415123 | 0.88[AFR][1000 genomes];0.96[EUR][1000 genomes] |
| rs55670004 | 0.83[AMR][1000 genomes] |
| rs60454446 | 0.88[AFR][1000 genomes];0.93[EUR][1000 genomes] |
| rs6595839 | 0.81[AMR][1000 genomes] |
| rs6595843 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs6859278 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6865322 | 0.81[AMR][1000 genomes] |
| rs6878310 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs6890614 | 0.82[AMR][1000 genomes] |
| rs6897794 | 0.81[AFR][1000 genomes];0.93[EUR][1000 genomes] |
| rs9327479 | 0.88[AFR][1000 genomes];0.96[EUR][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 | nsv531991 | chr5:127624564-127966085 | Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
| 2 | nsv427734 | chr5:127805281-128088632 | Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:2)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4836381 | FBN2 | cis | Thyroid | GTEx |
| rs4836381 | FBN2 | cis | lung | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:127914600-127922600 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
| 2 | chr5:127917200-127922600 | Weak transcription | Hela-S3 | cervix |
