Variant report
| Variant | rs11651000 |
|---|---|
| Chromosome Location | chr17:45835278-45835279 |
| 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 | chr17:45828857..45831550-chr17:45834956..45836482,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs11650354 | 0.88[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes] |
| rs11650451 | 0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11652603 | 0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11653146 | 0.92[AFR][1000 genomes];0.85[AMR][1000 genomes] |
| rs11655306 | 1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11657479 | 1.00[YRI][hapmap];0.92[AFR][1000 genomes] |
| rs11658895 | 1.00[ASN][1000 genomes] |
| rs16947078 | 0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes] |
| rs17250932 | 0.88[AFR][1000 genomes] |
| rs17700839 | 1.00[CHB][hapmap] |
| rs41321047 | 0.92[AFR][1000 genomes];0.84[AMR][1000 genomes] |
| rs55670919 | 0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs56172120 | 1.00[ASN][1000 genomes] |
| rs56254413 | 0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs57171311 | 1.00[ASN][1000 genomes] |
| rs66490177 | 0.92[AFR][1000 genomes];0.85[AMR][1000 genomes] |
| rs72831632 | 0.90[AFR][1000 genomes] |
| rs72831681 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs7502875 | 0.83[CEU][hapmap] |
| rs9898606 | 1.00[CHB][hapmap] |
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 | nsv498122 | chr17:45763853-46064327 | Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 67 gene(s) | inside rSNPs | diseases |
| 2 | nsv2071 | chr17:45801503-45844229 | Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
| 3 | esv1811624 | chr17:45825220-45846505 | Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
Variant related diseases (count:1)
| Disease | PMID | Source |
|---|---|---|
| IgG glycosylation | 23382691 | GWAS catalog |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11651000 | TBKBP1 | cis | Skin Sun Exposed Lower leg | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr17:45835000-45835400 | Bivalent Enhancer | Foreskin Fibroblast Primary Cells skin01 | Skin |
