Variant report
Variant | rs1468956 |
---|---|
Chromosome Location | chr2:186507861-186507862 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
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No data |
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No data |
rs_ID | r2[population] |
---|---|
rs1016410 | 0.87[EUR][1000 genomes] |
rs10173807 | 0.82[EUR][1000 genomes] |
rs10185794 | 0.85[ASN][1000 genomes] |
rs10192219 | 0.80[EUR][1000 genomes] |
rs10803992 | 0.86[ASN][1000 genomes] |
rs10803993 | 0.83[ASN][1000 genomes] |
rs10931178 | 0.83[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs10931181 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs10931188 | 0.81[ASN][1000 genomes] |
rs1116941 | 0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11886336 | 0.85[ASN][1000 genomes] |
rs11893024 | 0.83[EUR][1000 genomes] |
rs11896364 | 0.83[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs11897513 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs11898011 | 0.83[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs12464911 | 0.87[ASN][1000 genomes] |
rs12475752 | 0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs12615971 | 0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs12622188 | 0.83[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs12988839 | 0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12991700 | 0.85[EUR][1000 genomes] |
rs12992042 | 0.89[ASN][1000 genomes] |
rs12998112 | 0.87[EUR][1000 genomes] |
rs12999848 | 0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs13001443 | 0.83[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs13002387 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs13003744 | 0.87[EUR][1000 genomes] |
rs13003900 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs13027342 | 0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs13028347 | 0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs16826958 | 0.85[ASN][1000 genomes] |
rs1861896 | 0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs2216402 | 0.81[ASN][1000 genomes] |
rs2255620 | 0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs2287608 | 0.87[EUR][1000 genomes] |
rs2370475 | 0.82[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs2887742 | 0.96[ASN][1000 genomes] |
rs35740220 | 0.92[ASN][1000 genomes] |
rs36035600 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs36114949 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs4667047 | 0.81[ASN][1000 genomes] |
rs4667051 | 0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs58696152 | 0.80[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs62199142 | 0.88[EUR][1000 genomes] |
rs62199145 | 0.87[EUR][1000 genomes] |
rs6434137 | 0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6718246 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs6725306 | 0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6729201 | 0.84[ASN][1000 genomes] |
rs6733946 | 0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs6735082 | 0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs6749577 | 0.85[ASN][1000 genomes] |
rs6749812 | 0.87[ASN][1000 genomes] |
rs71407825 | 0.88[EUR][1000 genomes] |
rs759686 | 0.87[ASN][1000 genomes] |
rs759687 | 0.85[ASN][1000 genomes] |
rs7602728 | 0.88[EUR][1000 genomes] |
rs763330 | 0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs984988 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs988937 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1004048 | chr2:186303297-186541503 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
2 | nsv875540 | chr2:186345148-186583961 | Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
3 | nsv875541 | chr2:186345148-186598526 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
4 | nsv1006219 | chr2:186352780-186524793 | Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
5 | nsv584017 | chr2:186352959-186515328 | Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
6 | nsv584018 | chr2:186352959-186598526 | Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
7 | nsv916442 | chr2:186356363-186534152 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
8 | nsv1000814 | chr2:186391490-186520872 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
9 | nsv1007052 | chr2:186441382-186864390 | Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
10 | nsv584019 | chr2:186445393-186866874 | ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
11 | nsv1000561 | chr2:186450293-186556017 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS | TF binding regionChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
12 | nsv1009118 | chr2:186450293-186864390 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
13 | nsv1004422 | chr2:186463915-186556017 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS | TF binding regionChromatin interactive region | 4 gene(s) | inside rSNPs | diseases |
14 | esv2763034 | chr2:186473461-186587890 | Enhancers Weak transcription Flanking Active TSS | TF binding regionChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
15 | nsv1008230 | chr2:186474069-186818718 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
16 | nsv536076 | chr2:186474069-186818718 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
17 | nsv584020 | chr2:186475590-186661567 | Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
18 | nsv584021 | chr2:186475590-186866841 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:186503800-186508200 | Weak transcription | H9 Derived Neuron Cultured Cells | ES cell derived |
2 | chr2:186504200-186509000 | Weak transcription | Cortex derived primary cultured neurospheres | brain |
3 | chr2:186505400-186508400 | Weak transcription | Fetal Stomach | stomach |
4 | chr2:186507000-186510400 | Enhancers | Fetal Intestine Small | intestine |
5 | chr2:186507000-186511000 | Enhancers | Fetal Intestine Large | intestine |
6 | chr2:186507200-186508400 | Weak transcription | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
7 | chr2:186507600-186511200 | Enhancers | HepG2 | liver |