Variant report
| Variant | rs7446246 |
|---|---|
| Chromosome Location | chr5:127890612-127890613 |
| allele | A/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:182)
| rs_ID | r2[population] |
|---|---|
| rs10520003 | 1.00[ASN][1000 genomes] |
| rs11241962 | 1.00[ASN][1000 genomes] |
| rs11241964 | 1.00[ASN][1000 genomes] |
| rs11241965 | 1.00[ASN][1000 genomes] |
| rs11948376 | 1.00[ASN][1000 genomes] |
| rs11948920 | 1.00[ASN][1000 genomes] |
| rs11949017 | 1.00[ASN][1000 genomes] |
| rs11949649 | 1.00[ASN][1000 genomes] |
| rs11949660 | 1.00[ASN][1000 genomes] |
| rs11949692 | 1.00[ASN][1000 genomes] |
| rs11950568 | 1.00[ASN][1000 genomes] |
| rs11950625 | 1.00[ASN][1000 genomes] |
| rs11951267 | 1.00[ASN][1000 genomes] |
| rs11952247 | 1.00[ASN][1000 genomes] |
| rs11952334 | 1.00[ASN][1000 genomes] |
| rs11952524 | 0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11952602 | 1.00[ASN][1000 genomes] |
| rs11953201 | 1.00[ASN][1000 genomes] |
| rs11954034 | 1.00[ASN][1000 genomes] |
| rs11954070 | 1.00[ASN][1000 genomes] |
| rs11955937 | 1.00[ASN][1000 genomes] |
| rs11956467 | 1.00[ASN][1000 genomes] |
| rs11956495 | 1.00[ASN][1000 genomes] |
| rs11957280 | 1.00[ASN][1000 genomes] |
| rs11957487 | 1.00[ASN][1000 genomes] |
| rs11958508 | 1.00[ASN][1000 genomes] |
| rs11958996 | 1.00[ASN][1000 genomes] |
| rs11959560 | 1.00[ASN][1000 genomes] |
| rs13153812 | 1.00[ASN][1000 genomes] |
| rs13160701 | 1.00[ASN][1000 genomes] |
| rs13168271 | 1.00[ASN][1000 genomes] |
| rs1435512 | 1.00[ASN][1000 genomes] |
| rs17164083 | 1.00[ASN][1000 genomes] |
| rs17164086 | 1.00[ASN][1000 genomes] |
| rs17615636 | 1.00[ASN][1000 genomes] |
| rs17677244 | 1.00[ASN][1000 genomes] |
| rs34012094 | 1.00[ASN][1000 genomes] |
| rs34139509 | 1.00[ASN][1000 genomes] |
| rs34615740 | 1.00[ASN][1000 genomes] |
| rs34665677 | 1.00[ASN][1000 genomes] |
| rs34881645 | 1.00[ASN][1000 genomes] |
| rs35043622 | 1.00[ASN][1000 genomes] |
| rs36003105 | 1.00[ASN][1000 genomes] |
| rs36052309 | 1.00[ASN][1000 genomes] |
| rs36071106 | 1.00[ASN][1000 genomes] |
| rs36125852 | 1.00[ASN][1000 genomes] |
| rs3924302 | 1.00[ASN][1000 genomes] |
| rs4133248 | 1.00[ASN][1000 genomes] |
| rs4318822 | 1.00[ASN][1000 genomes] |
| rs4339399 | 1.00[ASN][1000 genomes] |
| rs4345355 | 1.00[ASN][1000 genomes] |
| rs4365880 | 1.00[ASN][1000 genomes] |
| rs4380709 | 1.00[ASN][1000 genomes] |
| rs4386769 | 1.00[ASN][1000 genomes] |
| rs4410683 | 1.00[ASN][1000 genomes] |
| rs4425555 | 1.00[ASN][1000 genomes] |
| rs4425556 | 1.00[ASN][1000 genomes] |
| rs4455613 | 1.00[ASN][1000 genomes] |
| rs4493715 | 1.00[ASN][1000 genomes] |
| rs4496752 | 1.00[ASN][1000 genomes] |
| rs4557470 | 1.00[ASN][1000 genomes] |
| rs4577751 | 1.00[ASN][1000 genomes] |
| rs4580821 | 1.00[ASN][1000 genomes] |
| rs4582335 | 1.00[ASN][1000 genomes] |
| rs4620068 | 1.00[ASN][1000 genomes] |
| rs4628037 | 1.00[ASN][1000 genomes] |
| rs4628038 | 1.00[ASN][1000 genomes] |
| rs4836374 | 1.00[ASN][1000 genomes] |
| rs55657505 | 1.00[ASN][1000 genomes] |
| rs55683423 | 1.00[ASN][1000 genomes] |
| rs55715053 | 1.00[ASN][1000 genomes] |
| rs55770077 | 1.00[ASN][1000 genomes] |
| rs55791343 | 1.00[ASN][1000 genomes] |
| rs55839668 | 1.00[ASN][1000 genomes] |
| rs55944506 | 1.00[ASN][1000 genomes] |
| rs56018106 | 1.00[ASN][1000 genomes] |
| rs56072924 | 1.00[ASN][1000 genomes] |
| rs56173634 | 1.00[ASN][1000 genomes] |
| rs56232757 | 1.00[ASN][1000 genomes] |
| rs56766733 | 1.00[ASN][1000 genomes] |
| rs57454105 | 1.00[ASN][1000 genomes] |
| rs58143160 | 1.00[ASN][1000 genomes] |
| rs58295967 | 1.00[ASN][1000 genomes] |
| rs58955919 | 1.00[ASN][1000 genomes] |
| rs59143127 | 1.00[ASN][1000 genomes] |
| rs59567527 | 1.00[ASN][1000 genomes] |
| rs60324229 | 1.00[ASN][1000 genomes] |
| rs60574263 | 1.00[ASN][1000 genomes] |
| rs61358597 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs61375240 | 1.00[ASN][1000 genomes] |
| rs62390696 | 1.00[ASN][1000 genomes] |
| rs62390705 | 1.00[ASN][1000 genomes] |
| rs62390715 | 1.00[ASN][1000 genomes] |
| rs62390716 | 1.00[ASN][1000 genomes] |
| rs62390718 | 1.00[ASN][1000 genomes] |
| rs62390719 | 1.00[ASN][1000 genomes] |
| rs62390724 | 1.00[ASN][1000 genomes] |
| rs62390725 | 1.00[ASN][1000 genomes] |
| rs62390726 | 1.00[ASN][1000 genomes] |
| rs6595840 | 1.00[ASN][1000 genomes] |
| rs66899065 | 1.00[ASN][1000 genomes] |
| rs67539441 | 1.00[ASN][1000 genomes] |
| rs67941180 | 1.00[ASN][1000 genomes] |
| rs6863062 | 1.00[ASN][1000 genomes] |
| rs6863262 | 1.00[ASN][1000 genomes] |
| rs6863380 | 1.00[ASN][1000 genomes] |
| rs6863460 | 1.00[ASN][1000 genomes] |
| rs6864449 | 1.00[ASN][1000 genomes] |
| rs6865828 | 1.00[ASN][1000 genomes] |
| rs6870737 | 1.00[ASN][1000 genomes] |
| rs6870746 | 1.00[ASN][1000 genomes] |
| rs6871698 | 1.00[ASN][1000 genomes] |
| rs6875600 | 1.00[ASN][1000 genomes] |
| rs6876597 | 1.00[ASN][1000 genomes] |
| rs6876609 | 1.00[ASN][1000 genomes] |
| rs6877748 | 1.00[ASN][1000 genomes] |
| rs6877872 | 1.00[ASN][1000 genomes] |
| rs6877956 | 1.00[ASN][1000 genomes] |
| rs6878062 | 1.00[ASN][1000 genomes] |
| rs6878172 | 1.00[ASN][1000 genomes] |
| rs6880762 | 1.00[ASN][1000 genomes] |
| rs6885752 | 1.00[ASN][1000 genomes] |
| rs6886451 | 1.00[ASN][1000 genomes] |
| rs6891153 | 1.00[ASN][1000 genomes] |
| rs6891166 | 1.00[ASN][1000 genomes] |
| rs6892406 | 1.00[ASN][1000 genomes] |
| rs6897170 | 1.00[ASN][1000 genomes] |
| rs6898190 | 1.00[ASN][1000 genomes] |
| rs73334912 | 1.00[ASN][1000 genomes] |
| rs73346354 | 1.00[ASN][1000 genomes] |
| rs73348066 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs73348070 | 1.00[ASN][1000 genomes] |
| rs73348077 | 1.00[ASN][1000 genomes] |
| rs73348078 | 1.00[ASN][1000 genomes] |
| rs73348080 | 1.00[ASN][1000 genomes] |
| rs73348085 | 1.00[ASN][1000 genomes] |
| rs73348087 | 1.00[ASN][1000 genomes] |
| rs73348099 | 1.00[ASN][1000 genomes] |
| rs73348102 | 1.00[ASN][1000 genomes] |
| rs73348278 | 1.00[ASN][1000 genomes] |
| rs73348280 | 1.00[ASN][1000 genomes] |
| rs73348283 | 1.00[ASN][1000 genomes] |
| rs73348287 | 1.00[ASN][1000 genomes] |
| rs73348295 | 1.00[ASN][1000 genomes] |
| rs73348296 | 1.00[ASN][1000 genomes] |
| rs73348299 | 1.00[ASN][1000 genomes] |
| rs73350106 | 1.00[ASN][1000 genomes] |
| rs73350109 | 1.00[ASN][1000 genomes] |
| rs73350115 | 1.00[ASN][1000 genomes] |
| rs73350129 | 1.00[ASN][1000 genomes] |
| rs73350134 | 1.00[ASN][1000 genomes] |
| rs73350195 | 1.00[ASN][1000 genomes] |
| rs73352205 | 1.00[ASN][1000 genomes] |
| rs73352207 | 1.00[ASN][1000 genomes] |
| rs73352225 | 1.00[ASN][1000 genomes] |
| rs7443826 | 0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7443867 | 0.81[AFR][1000 genomes];0.90[AMR][1000 genomes] |
| rs7446266 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs7446359 | 0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7447218 | 1.00[ASN][1000 genomes] |
| rs764369 | 1.00[ASN][1000 genomes] |
| rs7704921 | 1.00[ASN][1000 genomes] |
| rs7709202 | 1.00[ASN][1000 genomes] |
| rs7709476 | 1.00[ASN][1000 genomes] |
| rs7709634 | 1.00[ASN][1000 genomes] |
| rs7712769 | 0.90[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7714023 | 1.00[ASN][1000 genomes] |
| rs7714465 | 1.00[ASN][1000 genomes] |
| rs7714623 | 1.00[ASN][1000 genomes] |
| rs7720190 | 1.00[ASN][1000 genomes] |
| rs7724233 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7724383 | 0.83[AMR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7725452 | 1.00[ASN][1000 genomes] |
| rs7725949 | 0.85[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7727413 | 1.00[ASN][1000 genomes] |
| rs7728409 | 1.00[ASN][1000 genomes] |
| rs7730875 | 1.00[ASN][1000 genomes] |
| rs7732171 | 1.00[ASN][1000 genomes] |
| rs7734405 | 1.00[ASN][1000 genomes] |
| rs7734534 | 1.00[ASN][1000 genomes] |
| rs7735831 | 1.00[ASN][1000 genomes] |
| rs892864 | 1.00[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 | 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 | nsv530822 | chr5:127777365-127900742 | Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 2 gene(s) | inside rSNPs | diseases |
| 3 | 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:7)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs7446246 | FBN2 | cis | Artery Tibial | GTEx |
| rs7446246 | FBN2 | cis | lung | GTEx |
| rs7446246 | FBN2 | cis | Artery Aorta | GTEx |
| rs7446246 | FBN2 | cis | Adipose Subcutaneous | GTEx |
| rs7446246 | FBN2 | cis | Nerve Tibial | GTEx |
| rs7446246 | FBN2 | cis | Thyroid | GTEx |
| rs7446246 | FBN2 | cis | Whole Blood | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr5:127888000-127895000 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
