Variant report
| Variant | rs11652603 |
|---|---|
| Chromosome Location | chr17:45864620-45864621 |
| 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 | chr17:45863733..45866731-chr17:45884753..45887476,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000006025 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:17)
| rs_ID | r2[population] |
|---|---|
| rs11650354 | 0.84[AFR][1000 genomes] |
| rs11650451 | 0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11651000 | 0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
| rs11653146 | 0.84[AFR][1000 genomes] |
| rs11655306 | 0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs11657479 | 0.84[AFR][1000 genomes] |
| rs11658895 | 0.91[ASN][1000 genomes] |
| rs16947078 | 0.91[ASN][1000 genomes] |
| rs17250932 | 0.80[AFR][1000 genomes] |
| rs41321047 | 0.84[AFR][1000 genomes] |
| rs55670919 | 0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs56172120 | 0.91[ASN][1000 genomes] |
| rs56254413 | 0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs57171311 | 0.91[ASN][1000 genomes] |
| rs66490177 | 0.84[AFR][1000 genomes] |
| rs72831632 | 0.82[AFR][1000 genomes] |
| rs72831681 | 0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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 | 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 | nsv908572 | chr17:45858487-45900856 | Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
| 3 | nsv908573 | chr17:45858487-45956073 | Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 30 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:1)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs11652603 | TBKBP1 | cis | Skin Sun Exposed Lower leg | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr17:45861600-45867000 | Weak transcription | Right Atrium | heart |
