Variant report
Variant | rs62140737 |
---|---|
Chromosome Location | chr2:51524915-51524916 |
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 |
No data |
No data |
No data |
No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10490140 | 0.92[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs10490142 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs10490144 | 0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs10490146 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs10490147 | 0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs10490148 | 0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs10490149 | 0.80[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs10490151 | 0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs17588430 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17588666 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17588882 | 0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17588966 | 0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs17863570 | 1.00[ASN][1000 genomes] |
rs17863571 | 1.00[ASN][1000 genomes] |
rs2353318 | 0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4998140 | 0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4998141 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4998143 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs4998144 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs55653342 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62140695 | 0.93[EUR][1000 genomes] |
rs62140697 | 0.84[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs62140698 | 0.80[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140699 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140700 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140701 | 0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140702 | 0.84[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140721 | 0.86[EUR][1000 genomes] |
rs62140722 | 0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140723 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs62140724 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140725 | 0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140726 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs62140727 | 0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs62140728 | 0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140729 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs62140730 | 0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs62140731 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs62140732 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs62140744 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62140745 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62140746 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62140747 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62140748 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142867 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142868 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142869 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142871 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142872 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142873 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142874 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142875 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142876 | 0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142877 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142879 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142880 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142883 | 0.98[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs62142884 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142885 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142886 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62142887 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6709031 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72832136 | 0.87[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs72832138 | 0.82[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs72832139 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs72832141 | 0.87[AMR][1000 genomes];0.95[EUR][1000 genomes] |
rs72832143 | 0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs72832145 | 0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs72832146 | 0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs72832147 | 0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs72832163 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72832165 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72832170 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72832172 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs72832179 | 0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7563048 | 0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7576159 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7576370 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7579154 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7579241 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7602731 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7602908 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7602955 | 0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv932208 | chr2:50847100-51556715 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
2 | nsv915824 | chr2:50978466-51528474 | Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
3 | nsv581853 | chr2:51013647-51554047 | Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
4 | nsv1014907 | chr2:51074517-51532889 | Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
5 | nsv1007188 | chr2:51135645-51821787 | Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
6 | nsv535704 | chr2:51135645-51821787 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
7 | nsv1005168 | chr2:51142848-51702008 | Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
8 | nsv535705 | chr2:51142848-51702008 | Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
9 | nsv948449 | chr2:51152019-51735494 | Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 9 gene(s) | inside rSNPs | diseases |
10 | nsv1001552 | chr2:51225970-52139741 | Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
11 | nsv535708 | chr2:51225970-52139741 | Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
12 | nsv1004239 | chr2:51226169-51606258 | Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
13 | nsv535709 | chr2:51226169-51606258 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
14 | nsv491634 | chr2:51226170-51556715 | Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
15 | nsv874057 | chr2:51294096-51606559 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
16 | nsv530834 | chr2:51314371-51556715 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
17 | nsv1011583 | chr2:51382812-51702008 | Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
18 | nsv535711 | chr2:51382812-51702008 | Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
19 | nsv874064 | chr2:51492973-51594480 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
20 | nsv821624 | chr2:51513925-51844864 | Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
21 | esv2760590 | chr2:51517041-51525025 | Enhancers Weak transcription Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
22 | esv1841147 | chr2:51519281-51569503 | Weak transcription Enhancers Active TSS Flanking Active TSS | Chromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:51524600-51525000 | Enhancers | IMR90 fetal lung fibroblasts Cell Line | lung |
2 | chr2:51524600-51525000 | Enhancers | Fetal Kidney | kidney |