Variant report
| Variant | rs250739 |
|---|---|
| Chromosome Location | chr5:76045831-76045832 |
| allele | A/G |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:3 , 50 per page) page:
1
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:28)
| rs_ID | r2[population] |
|---|---|
| rs152778 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs153306 | 0.89[ASN][1000 genomes] |
| rs153310 | 0.90[ASN][1000 genomes] |
| rs193943 | 0.97[ASN][1000 genomes] |
| rs250716 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs250717 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs250719 | 0.98[ASN][1000 genomes] |
| rs250720 | 0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs250723 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs250730 | 0.90[ASN][1000 genomes] |
| rs250731 | 0.90[ASN][1000 genomes] |
| rs250741 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs250742 | 0.99[ASN][1000 genomes] |
| rs250743 | 0.89[ASN][1000 genomes] |
| rs250744 | 0.99[ASN][1000 genomes] |
| rs250745 | 0.99[ASN][1000 genomes] |
| rs250746 | 0.99[ASN][1000 genomes] |
| rs250747 | 0.97[ASN][1000 genomes] |
| rs250748 | 0.99[ASN][1000 genomes] |
| rs250749 | 0.83[ASN][1000 genomes] |
| rs250750 | 0.98[ASN][1000 genomes] |
| rs250751 | 0.88[AFR][1000 genomes];0.97[ASN][1000 genomes] |
| rs250752 | 0.88[AFR][1000 genomes];0.97[ASN][1000 genomes] |
| rs253072 | 0.87[ASN][1000 genomes] |
| rs253073 | 0.83[AFR][1000 genomes];0.87[ASN][1000 genomes] |
| rs37250 | 0.83[ASN][1000 genomes] |
| rs457606 | 0.91[ASN][1000 genomes] |
| rs705402 | 0.93[AFR][1000 genomes];1.00[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 | nsv1019669 | chr5:75836365-76477788 | Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
| 2 | nsv1035135 | chr5:75927027-76092058 | Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs250739 | F2R | cis | Muscle Skeletal | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:76030600-76046600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
| 2 | chr5:76035800-76046400 | Weak transcription | HepG2 | liver |
