Variant report
Variant | rs9644568 |
---|---|
Chromosome Location | chr8:19928582-19928583 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:7)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:7 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr8:19927924..19930006-chr8:20054112..20056790,2 | K562 | blood: | |
2 | chr8:19922124..19924701-chr8:19926606..19930260,4 | K562 | blood: | |
3 | chr8:19847973..19850386-chr8:19927067..19928917,2 | K562 | blood: | |
4 | chr8:19928488..19931402-chr8:19934258..19936507,2 | K562 | blood: | |
5 | chr8:19917481..19922077-chr8:19926619..19931502,5 | K562 | blood: | |
6 | chr8:19869466..19870969-chr8:19928497..19931121,2 | K562 | blood: | |
7 | chr8:19928488..19931156-chr8:19934258..19936000,2 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000147416 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs1059611 | 0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap] |
rs11570891 | 0.83[JPT][hapmap] |
rs11989309 | 0.83[AMR][1000 genomes] |
rs11991231 | 0.85[ASN][1000 genomes] |
rs12678604 | 0.83[AMR][1000 genomes] |
rs12679834 | 0.83[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap] |
rs325 | 0.83[JPT][hapmap] |
rs328 | 0.83[JPT][hapmap] |
rs3735964 | 0.83[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap] |
rs4128744 | 0.92[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs6983430 | 0.83[AMR][1000 genomes] |
rs7004149 | 0.83[AMR][1000 genomes] |
rs7004158 | 0.83[AMR][1000 genomes] |
rs7007609 | 0.83[AMR][1000 genomes] |
rs7007797 | 0.83[AMR][1000 genomes] |
rs7016880 | 0.83[AMR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv610759 | chr8:19561997-20068842 | Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 21 gene(s) | inside rSNPs | diseases |
2 | nsv1033511 | chr8:19751299-20625091 | Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
3 | nsv530877 | chr8:19873053-20593254 | Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
4 | nsv890633 | chr8:19875100-19985382 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
Disease | PMID | Source |
---|---|---|
Hypertriglyceridemia | 23505323 | GWAS catalog |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs9644568 | LPL | cis | multi-tissue | Pritchard |
rs9644568 | TNFRSF10D | cis | cerebellum | SCAN |
rs9644568 | POLR3D | cis | parietal | SCAN |
rs9644568 | CNOT7 | cis | parietal | SCAN |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:19919600-19931600 | Weak transcription | Lung | lung |
2 | chr8:19921600-19932200 | Weak transcription | Left Ventricle | heart |
3 | chr8:19928400-19929200 | Active TSS | K562 | blood |