Variant report
| Variant | rs2084898 |
|---|---|
| Chromosome Location | chr11:120026748-120026749 |
| 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 | chr11:120014929..120017007-chr11:120025369..120027971,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:21)
| rs_ID | r2[population] |
|---|---|
| rs12418021 | 1.00[CHB][hapmap] |
| rs12420591 | 0.87[EUR][1000 genomes] |
| rs1349688 | 1.00[CHB][hapmap];1.00[ASN][1000 genomes] |
| rs17311212 | 1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs2084897 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2084899 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes] |
| rs2511023 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs4938783 | 1.00[ASN][1000 genomes] |
| rs55920307 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs56339619 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes] |
| rs56391092 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs569044 | 1.00[ASW][hapmap];0.82[EUR][1000 genomes] |
| rs60336713 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes] |
| rs66553012 | 0.81[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs7114201 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes] |
| rs7116650 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs7119954 | 0.94[AMR][1000 genomes];0.98[EUR][1000 genomes] |
| rs73004754 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes] |
| rs73004764 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes] |
| rs73004786 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs73004793 | 0.89[AMR][1000 genomes];0.90[EUR][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 | nsv1054057 | chr11:119781953-120519770 | Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 2 | nsv541178 | chr11:119781953-120519770 | Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
| 3 | nsv428581 | chr11:120006048-120167603 | Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 12 gene(s) | inside rSNPs | diseases |
| 4 | nsv518463 | chr11:120023505-120026748 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
Variant related diseases (count:1)
| Disease | PMID | Source |
|---|---|---|
| Stroke (pediatric) | 22990015 | GWAS catalog |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs2084898 | OAF | cis | Thyroid | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:120025600-120027200 | Weak transcription | Aorta | Aorta |
