Variant report
Variant | rs12327365 |
---|---|
Chromosome Location | chr18:39672516-39672517 |
allele | C/G |
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 |
No data |
No data |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10221315 | 0.90[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes] |
rs10468957 | 0.93[ASN][1000 genomes] |
rs11082255 | 0.83[CHB][hapmap] |
rs11659568 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11660388 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11660513 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11662171 | 0.85[EUR][1000 genomes] |
rs12326267 | 0.93[ASN][1000 genomes] |
rs12455083 | 0.83[ASW][hapmap];0.83[CHB][hapmap] |
rs12457082 | 0.84[ASN][1000 genomes] |
rs12457086 | 0.84[ASN][1000 genomes] |
rs12709716 | 0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12954202 | 0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12964931 | 0.90[ASN][1000 genomes] |
rs1557418 | 0.93[ASN][1000 genomes] |
rs1557419 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs1573497 | 0.93[ASN][1000 genomes] |
rs1787173 | 0.88[CEU][hapmap];0.90[TSI][hapmap] |
rs1788988 | 0.88[EUR][1000 genomes] |
rs1941532 | 0.93[ASN][1000 genomes] |
rs1944967 | 0.88[CEU][hapmap];0.90[TSI][hapmap] |
rs2096896 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2096897 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2105680 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3932738 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs3932739 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4121811 | 0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs4447506 | 0.84[CEU][hapmap] |
rs477256 | 0.88[EUR][1000 genomes] |
rs484350 | 0.92[CEU][hapmap];0.89[EUR][1000 genomes] |
rs4890222 | 0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs4890377 | 0.86[CHB][hapmap] |
rs4890379 | 0.83[CHB][hapmap] |
rs500086 | 0.82[EUR][1000 genomes] |
rs503472 | 0.89[EUR][1000 genomes] |
rs511605 | 0.92[CEU][hapmap];0.89[EUR][1000 genomes] |
rs514227 | 0.86[EUR][1000 genomes] |
rs515626 | 0.88[CEU][hapmap];0.83[EUR][1000 genomes] |
rs519465 | 0.89[EUR][1000 genomes] |
rs525399 | 0.83[EUR][1000 genomes] |
rs530113 | 0.82[EUR][1000 genomes] |
rs531258 | 0.87[CEU][hapmap] |
rs535626 | 0.89[EUR][1000 genomes] |
rs536139 | 0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs56147258 | 0.93[ASN][1000 genomes] |
rs577955 | 0.86[EUR][1000 genomes] |
rs581950 | 0.87[CHB][hapmap] |
rs582268 | 0.85[EUR][1000 genomes] |
rs587686 | 0.84[EUR][1000 genomes] |
rs593248 | 0.88[CEU][hapmap];0.90[TSI][hapmap] |
rs600658 | 0.86[EUR][1000 genomes] |
rs620052 | 0.83[EUR][1000 genomes] |
rs620344 | 0.83[EUR][1000 genomes] |
rs62082911 | 0.91[ASN][1000 genomes] |
rs622939 | 0.83[EUR][1000 genomes] |
rs627636 | 0.89[EUR][1000 genomes] |
rs639656 | 0.82[EUR][1000 genomes] |
rs647512 | 0.83[EUR][1000 genomes] |
rs657164 | 0.83[CHB][hapmap] |
rs681048 | 0.81[EUR][1000 genomes] |
rs693020 | 0.87[EUR][1000 genomes] |
rs7237998 | 0.93[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs948871 | 1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs948872 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs948873 | 0.93[ASN][1000 genomes] |
rs9635942 | 0.93[ASN][1000 genomes] |
rs9807114 | 0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1066869 | chr18:38742896-39680723 | Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
2 | nsv543685 | chr18:38742896-39680723 | Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 7 gene(s) | inside rSNPs | diseases |
3 | nsv949609 | chr18:39126941-40070286 | Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
4 | nsv431979 | chr18:39255558-39696452 | Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
5 | nsv909566 | chr18:39327962-39688452 | Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 5 gene(s) | inside rSNPs | diseases |
6 | esv34153 | chr18:39398768-39872265 | Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
7 | nsv909568 | chr18:39491873-39768746 | Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 6 gene(s) | inside rSNPs | diseases |
8 | nsv1057988 | chr18:39618253-39713904 | Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
9 | nsv1065792 | chr18:39619676-39711798 | Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
10 | nsv1057790 | chr18:39621947-39705550 | Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
11 | esv2762006 | chr18:39621947-39713916 | Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
12 | nsv1063952 | chr18:39621947-39718600 | Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
13 | nsv1064973 | chr18:39623604-39711798 | Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
14 | nsv833631 | chr18:39633503-39824091 | Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr18:39634800-39674600 | Weak transcription | ES-I3 Cell Line | embryonic stem cell |
2 | chr18:39644200-39674800 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
3 | chr18:39649200-39674600 | Weak transcription | Fetal Intestine Small | intestine |
4 | chr18:39653000-39683400 | Weak transcription | Aorta | Aorta |
5 | chr18:39659800-39675400 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
6 | chr18:39660000-39674400 | Weak transcription | Fetal Intestine Large | intestine |
7 | chr18:39663200-39675400 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
8 | chr18:39664000-39675000 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
9 | chr18:39664200-39673000 | Weak transcription | Adipose Nuclei | Adipose |
10 | chr18:39671200-39672800 | Enhancers | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
11 | chr18:39672400-39673800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |