Variant report
Variant | rs34477108 |
---|---|
Chromosome Location | chr3:48941782-48941783 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:2)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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Variant related genes | Relation type |
---|---|
ENSG00000178537 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10780033 | 0.90[ASN][1000 genomes] |
rs11130176 | 0.90[ASN][1000 genomes] |
rs1134591 | 0.95[ASN][1000 genomes] |
rs11552724 | 0.80[EUR][1000 genomes] |
rs11705737 | 0.95[ASN][1000 genomes] |
rs11706052 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs11708022 | 1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs11708786 | 0.84[AMR][1000 genomes] |
rs11709092 | 0.96[AMR][1000 genomes] |
rs11709246 | 1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11712006 | 0.85[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs11712982 | 0.97[ASN][1000 genomes] |
rs11713694 | 1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11715177 | 0.84[AMR][1000 genomes] |
rs11715689 | 0.96[AMR][1000 genomes] |
rs11715713 | 0.96[AMR][1000 genomes] |
rs11715835 | 1.00[AMR][1000 genomes] |
rs11717978 | 0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11718982 | 0.85[AMR][1000 genomes] |
rs11719457 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs11920534 | 0.97[ASN][1000 genomes] |
rs11924597 | 0.97[ASN][1000 genomes] |
rs12493289 | 0.85[ASN][1000 genomes] |
rs12637037 | 0.80[ASN][1000 genomes] |
rs13063223 | 0.84[AMR][1000 genomes] |
rs13064911 | 1.00[ASN][1000 genomes] |
rs13072554 | 0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs13072911 | 0.95[ASN][1000 genomes] |
rs13073997 | 1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs13074318 | 1.00[AMR][1000 genomes] |
rs13076394 | 0.84[ASN][1000 genomes] |
rs13080725 | 0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs13084000 | 1.00[AMR][1000 genomes] |
rs13086240 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs13087930 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs13090839 | 0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs13094900 | 0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs13315711 | 0.95[ASN][1000 genomes] |
rs13316620 | 0.87[ASN][1000 genomes] |
rs13324950 | 0.84[AMR][1000 genomes] |
rs28642807 | 0.95[ASN][1000 genomes] |
rs28793701 | 0.84[AMR][1000 genomes] |
rs34037363 | 0.93[AMR][1000 genomes];0.85[EUR][1000 genomes] |
rs34504524 | 0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs34509487 | 1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs34580506 | 0.85[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs34889065 | 0.80[EUR][1000 genomes] |
rs35102816 | 0.85[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs35108630 | 0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs35283189 | 0.85[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs3923475 | 0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs4072859 | 0.92[ASN][1000 genomes] |
rs4077495 | 0.84[AMR][1000 genomes] |
rs4974078 | 0.88[ASN][1000 genomes] |
rs4974079 | 0.95[ASN][1000 genomes] |
rs4974080 | 0.87[ASN][1000 genomes] |
rs4974082 | 0.92[ASN][1000 genomes] |
rs4974084 | 0.97[ASN][1000 genomes] |
rs4974085 | 0.90[ASN][1000 genomes] |
rs4974087 | 0.90[ASN][1000 genomes] |
rs5030795 | 0.80[EUR][1000 genomes] |
rs55674449 | 0.93[ASN][1000 genomes] |
rs55761431 | 0.85[AMR][1000 genomes] |
rs56318350 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56735597 | 0.84[AMR][1000 genomes] |
rs61729488 | 0.85[AMR][1000 genomes];0.84[EUR][1000 genomes] |
rs6414613 | 0.87[ASN][1000 genomes] |
rs6446196 | 0.97[ASN][1000 genomes] |
rs6446198 | 0.95[ASN][1000 genomes] |
rs6446205 | 0.87[ASN][1000 genomes] |
rs6446252 | 0.90[ASN][1000 genomes] |
rs6446253 | 0.85[ASN][1000 genomes] |
rs67060340 | 0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs67332931 | 1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs6768433 | 0.81[ASN][1000 genomes] |
rs6781790 | 0.87[ASN][1000 genomes] |
rs6786665 | 0.95[ASN][1000 genomes] |
rs6791234 | 0.95[ASN][1000 genomes] |
rs6795025 | 0.82[ASN][1000 genomes] |
rs71324924 | 1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs71324929 | 0.85[AMR][1000 genomes];0.89[EUR][1000 genomes] |
rs73078349 | 0.81[AMR][1000 genomes] |
rs73078362 | 0.81[AMR][1000 genomes] |
rs73080361 | 0.88[AMR][1000 genomes] |
rs7373778 | 0.92[ASN][1000 genomes] |
rs7430198 | 1.00[ASN][1000 genomes] |
rs7430501 | 0.90[ASN][1000 genomes] |
rs7431710 | 0.95[ASN][1000 genomes] |
rs7431857 | 0.90[ASN][1000 genomes] |
rs7612459 | 0.90[ASN][1000 genomes] |
rs7623023 | 0.90[ASN][1000 genomes] |
rs7627404 | 0.87[ASN][1000 genomes] |
rs7628719 | 0.95[ASN][1000 genomes] |
rs7636057 | 0.82[ASN][1000 genomes] |
rs7639332 | 1.00[ASN][1000 genomes] |
rs7643368 | 0.95[ASN][1000 genomes] |
rs7649458 | 0.90[ASN][1000 genomes] |
rs8926 | 0.82[ASN][1000 genomes] |
rs9311430 | 0.90[ASN][1000 genomes] |
rs9311432 | 0.90[ASN][1000 genomes] |
rs9311433 | 0.90[ASN][1000 genomes] |
rs9311434 | 0.85[ASN][1000 genomes] |
rs9681717 | 0.95[ASN][1000 genomes] |
rs9682444 | 0.92[ASN][1000 genomes] |
rs9754878 | 0.92[ASN][1000 genomes] |
rs9755490 | 0.95[ASN][1000 genomes] |
rs9830636 | 0.90[ASN][1000 genomes] |
rs9834996 | 0.84[AMR][1000 genomes] |
rs9835307 | 0.95[ASN][1000 genomes] |
rs9840684 | 0.90[ASN][1000 genomes] |
rs9850134 | 0.95[ASN][1000 genomes] |
rs9867373 | 0.95[ASN][1000 genomes] |
rs9876848 | 0.90[ASN][1000 genomes] |
rs9877542 | 0.84[AMR][1000 genomes] |
rs9877685 | 0.84[AMR][1000 genomes] |
rs9879971 | 0.90[ASN][1000 genomes] |
rs9882549 | 0.84[AMR][1000 genomes] |
rs9884022 | 0.95[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3487342 | chr3:48823957-48960475 | Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
2 | esv3487343 | chr3:48823963-48960381 | Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 39 gene(s) | inside rSNPs | diseases |
3 | nsv980012 | chr3:48935037-48963512 | Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 30 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:48936600-48954800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
2 | chr3:48936600-48954800 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
3 | chr3:48936800-48948600 | Weak transcription | Right Atrium | heart |
4 | chr3:48937800-48941800 | Weak transcription | Primary T helper cells fromperipheralblood | blood |
5 | chr3:48939800-48942600 | Enhancers | Primary B cells from peripheral blood | blood |
6 | chr3:48941000-48942400 | Enhancers | Primary Natural Killer cells fromperipheralblood | blood |
7 | chr3:48941000-48942400 | Enhancers | GM12878-XiMat | blood |
8 | chr3:48941200-48941800 | Enhancers | Placenta | Placenta |
9 | chr3:48941400-48943000 | Weak transcription | K562 | blood |
10 | chr3:48941600-48941800 | Enhancers | HepG2 | liver |
11 | chr3:48941600-48942400 | Enhancers | Primary T cells fromperipheralblood | blood |