Variant report
Variant | rs263247 |
---|---|
Chromosome Location | chr8:131792219-131792220 |
allele | C/T |
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 | chr8:131788241..131790015-chr8:131791952..131794788,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10097218 | 0.82[ASN][1000 genomes] |
rs10435556 | 0.84[ASN][1000 genomes] |
rs10435557 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs10956547 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs10956548 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs10956551 | 0.80[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs10956552 | 0.80[ASN][1000 genomes] |
rs11984653 | 0.82[ASN][1000 genomes] |
rs11993878 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12545452 | 0.81[ASN][1000 genomes] |
rs12545966 | 0.81[ASN][1000 genomes] |
rs12546136 | 0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs12550841 | 0.82[ASN][1000 genomes] |
rs13250130 | 0.82[ASN][1000 genomes] |
rs13258564 | 0.82[ASN][1000 genomes] |
rs13259683 | 0.82[ASN][1000 genomes] |
rs13278937 | 0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs1509854 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1509855 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1509856 | 0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1509857 | 0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1509858 | 0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1509859 | 0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1509860 | 0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs17225213 | 0.82[ASN][1000 genomes] |
rs17316525 | 0.82[ASN][1000 genomes] |
rs182026 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1836628 | 0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1848776 | 0.84[ASN][1000 genomes] |
rs1848777 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs2164304 | 0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs2196315 | 0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs2572867 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs263231 | 0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs263245 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs263249 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2889477 | 0.81[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs368403 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs3793387 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs4339660 | 0.81[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs5000695 | 0.80[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs6470852 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs6997501 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs6998308 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7002481 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs7007094 | 0.84[ASN][1000 genomes] |
rs7010990 | 0.84[ASN][1000 genomes] |
rs7014884 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs7015398 | 0.81[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs873666 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs873667 | 0.81[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs9297815 | 0.80[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page:
1
No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv612294 | chr8:131645079-131923377 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
2 | nsv891448 | chr8:131668278-131968469 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
3 | nsv831462 | chr8:131704119-131895793 | Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
4 | nsv1034107 | chr8:131740146-131985765 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
5 | nsv539747 | chr8:131740146-131985765 | Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
6 | esv2019870 | chr8:131791806-131792231 | Enhancers Weak transcription | Chromatin interactive region | n/a | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:131789600-131814800 | Weak transcription | Brain Dorsolateral Prefrontal Cortex | brain |
2 | chr8:131790000-131813800 | Weak transcription | Brain Substantia Nigra | brain |
3 | chr8:131791600-131792400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
4 | chr8:131791600-131814000 | Weak transcription | Brain Angular Gyrus | brain |
5 | chr8:131792000-131792400 | Enhancers | Cortex derived primary cultured neurospheres | brain |
6 | chr8:131792200-131792400 | Enhancers | Fetal Muscle Leg | muscle |