Variant report
Variant | rs1820927 |
---|---|
Chromosome Location | chr2:134035815-134035816 |
allele | A/C/G/T |
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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rs_ID | r2[population] |
---|---|
rs10167342 | 0.83[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs10170384 | 0.87[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs10182118 | 0.91[EUR][1000 genomes] |
rs10185165 | 0.87[AMR][1000 genomes] |
rs10189529 | 0.90[AFR][1000 genomes];0.94[AMR][1000 genomes] |
rs10193871 | 0.89[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs10206544 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes] |
rs10210486 | 0.85[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs10496702 | 0.90[EUR][1000 genomes] |
rs10496703 | 1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10496704 | 0.94[AMR][1000 genomes] |
rs12464930 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12469282 | 0.92[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs13390487 | 0.94[EUR][1000 genomes] |
rs13391016 | 0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs13399345 | 0.94[AMR][1000 genomes] |
rs13399558 | 0.94[AMR][1000 genomes] |
rs13412008 | 0.94[AMR][1000 genomes] |
rs13413333 | 0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs13418981 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs13430905 | 0.94[EUR][1000 genomes] |
rs13431418 | 0.91[EUR][1000 genomes] |
rs1344725 | 0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs1344727 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs1344728 | 0.90[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs1430169 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs17800749 | 0.87[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs1835341 | 0.87[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs2115865 | 0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2217428 | 0.87[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs4057049 | 0.94[EUR][1000 genomes] |
rs4589811 | 0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes] |
rs61632923 | 0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes] |
rs62178459 | 0.88[EUR][1000 genomes] |
rs62179960 | 0.92[EUR][1000 genomes] |
rs62179961 | 0.89[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62179967 | 0.91[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs62179969 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs62179970 | 0.91[AMR][1000 genomes];0.96[EUR][1000 genomes] |
rs62180003 | 0.97[AFR][1000 genomes];0.92[AMR][1000 genomes] |
rs6430405 | 0.82[EUR][1000 genomes] |
rs6744863 | 0.90[EUR][1000 genomes] |
rs6756852 | 0.85[EUR][1000 genomes] |
rs7600407 | 0.87[EUR][1000 genomes] |
rs7600871 | 0.91[EUR][1000 genomes] |
rs7603759 | 0.89[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv997821 | chr2:133868822-134360220 | ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
2 | nsv535927 | chr2:133868822-134360220 | Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
3 | nsv1002488 | chr2:133890159-134275312 | Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
4 | nsv535928 | chr2:133890159-134275312 | Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 21 gene(s) | inside rSNPs | diseases |
5 | nsv1011100 | chr2:133900062-134046163 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
6 | esv3375790 | chr2:133906915-134222833 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 20 gene(s) | inside rSNPs | diseases |
7 | nsv1005405 | chr2:133930876-134055434 | Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
8 | nsv535929 | chr2:133930876-134055434 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
9 | nsv516915 | chr2:133999831-134054662 | Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
10 | nsv834384 | chr2:134005229-134188648 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
11 | esv3426939 | chr2:134033182-134038980 | Weak transcription ZNF genes & repeats Enhancers Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:134028200-134042200 | Weak transcription | Hela-S3 | cervix |
2 | chr2:134035600-134036000 | ZNF genes & repeats | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
3 | chr2:134035600-134036800 | ZNF genes & repeats | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
4 | chr2:134035600-134037200 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
5 | chr2:134035800-134036200 | ZNF genes & repeats | IMR90 fetal lung fibroblasts Cell Line | lung |