Variant report
Variant | rs34690304 |
---|---|
Chromosome Location | chr18:12734568-12734569 |
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 | chr18:12701170..12703824-chr18:12734479..12737400,3 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000101624 | Chromatin interaction |
ENSG00000128789 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs12373207 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs12454322 | 0.80[EUR][1000 genomes] |
rs12455268 | 0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12455295 | 0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12457771 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12458097 | 0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12458895 | 0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs12957555 | 0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12957603 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12957810 | 0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12960623 | 0.86[ASN][1000 genomes] |
rs12963505 | 0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12966367 | 0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12968771 | 0.86[ASN][1000 genomes] |
rs12969300 | 0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs17616402 | 0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs2011575 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs2011579 | 0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs34040888 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs34120824 | 0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs34277169 | 0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs34537593 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs34632667 | 0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs34847769 | 0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs35322088 | 0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs35506854 | 0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs35634465 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs35699948 | 0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs35898717 | 0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs45589535 | 0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs45596833 | 0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs55870255 | 0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs62095975 | 0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs62096023 | 0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs62096046 | 1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs62096048 | 0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs66808227 | 0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs7233175 | 0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs7233694 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs8083182 | 0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs8086265 | 0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs8086846 | 0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes] |
rs9303774 | 0.87[EUR][1000 genomes] |
rs933600 | 0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs963920 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs9948844 | 0.94[EUR][1000 genomes] |
rs9959039 | 0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs9964868 | 0.82[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1063125 | chr18:12046892-12918251 | Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 130 gene(s) | inside rSNPs | diseases |
2 | nsv491873 | chr18:12159445-12739784 | Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 79 gene(s) | inside rSNPs | diseases |
3 | esv3528039 | chr18:12396582-12851293 | Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 36 gene(s) | inside rSNPs | diseases |
4 | esv3528041 | chr18:12396641-12851245 | Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 36 gene(s) | inside rSNPs | diseases |
5 | nsv523743 | chr18:12474505-12742809 | Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
6 | nsv1062014 | chr18:12687210-13183383 | Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 101 gene(s) | inside rSNPs | diseases |
7 | nsv543655 | chr18:12687210-13183383 | Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 101 gene(s) | inside rSNPs | diseases |
8 | nsv1064273 | chr18:12697601-12828251 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
9 | nsv909405 | chr18:12727224-12750499 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer | TF binding regionChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
10 | nsv909406 | chr18:12727224-12761498 | ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
11 | nsv1062149 | chr18:12728115-12783898 | Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr18:12723000-12748400 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
2 | chr18:12726200-12740400 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
3 | chr18:12726600-12735600 | Weak transcription | Right Atrium | heart |
4 | chr18:12727000-12745800 | Weak transcription | Thymus | Thymus |
5 | chr18:12727200-12740600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
6 | chr18:12731000-12736400 | Weak transcription | A549 | lung |
7 | chr18:12732400-12737800 | Weak transcription | Dnd41 | blood |
8 | chr18:12732800-12735600 | Weak transcription | HepG2 | liver |