Variant report
Variant | rs2459625 |
---|---|
Chromosome Location | chr2:63493717-63493718 |
allele | A/C |
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 |
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rs_ID | r2[population] |
---|---|
rs12329383 | 0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12473198 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12475441 | 0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs13411767 | 0.94[ASN][1000 genomes] |
rs1517406 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs1517407 | 0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs1517408 | 0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs17348120 | 0.90[ASN][1000 genomes] |
rs17408750 | 0.92[ASN][1000 genomes] |
rs17408988 | 0.89[ASN][1000 genomes] |
rs2138799 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2421822 | 0.89[ASN][1000 genomes] |
rs2421863 | 0.96[ASN][1000 genomes] |
rs2421879 | 0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2677443 | 0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2699393 | 0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2699394 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2699396 | 0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes] |
rs2699397 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2901574 | 0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs2951180 | 0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4453673 | 0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs4671462 | 0.89[ASN][1000 genomes] |
rs62177760 | 0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs62177773 | 0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs62177784 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs62177822 | 0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs6735612 | 0.90[ASN][1000 genomes] |
rs7584531 | 0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7585088 | 0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7585342 | 0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs992214 | 0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs993244 | 0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3417336 | chr2:62957866-63749654 | Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 18 gene(s) | inside rSNPs | diseases |
2 | nsv1006848 | chr2:63061816-63631407 | Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
3 | esv3340700 | chr2:63127412-63534998 | Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
4 | nsv1004678 | chr2:63230722-63562484 | Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 13 gene(s) | inside rSNPs | diseases |
5 | nsv535768 | chr2:63413596-63631407 | Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | nsv1009191 | chr2:63473443-63578508 | Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | esv1800788 | chr2:63473443-63900292 | ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
8 | nsv834241 | chr2:63490262-63668205 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:63476600-63496000 | Weak transcription | Primary B cells from cord blood | blood |