Variant report
Variant | rs10243275 |
---|---|
Chromosome Location | chr3:60429857-60429858 |
allele | C/G/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 |
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No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10224406 | 0.84[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs10226448 | 0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10226787 | 0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs10229052 | 0.80[AMR][1000 genomes] |
rs10230054 | 0.82[AMR][1000 genomes] |
rs10242012 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs10245082 | 0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10245287 | 0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10248922 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10249779 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs10250128 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10252481 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10258669 | 0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs10260797 | 0.86[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs10265569 | 0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs10271196 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10272491 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10276105 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs10277995 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10281472 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10281833 | 0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1159874 | 0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12530927 | 0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs12535849 | 0.86[AMR][1000 genomes] |
rs12536437 | 0.81[AMR][1000 genomes] |
rs12537107 | 0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12539212 | 0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12539911 | 0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12670320 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12672377 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs12672567 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs13228331 | 0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs13228500 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs13228531 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs13239768 | 0.86[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs13241328 | 0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs17142178 | 0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs2214319 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs2214320 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs2390199 | 0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs28852390 | 0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs2892957 | 0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs36157620 | 0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs36200915 | 0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs4141353 | 0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4994101 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs4994102 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs58159256 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs6461466 | 0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs6966428 | 0.85[AMR][1000 genomes];0.85[ASN][1000 genomes] |
rs6977047 | 0.82[AMR][1000 genomes] |
rs6977654 | 0.81[AFR][1000 genomes];0.82[AMR][1000 genomes] |
rs73267155 | 0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7779502 | 0.81[EUR][1000 genomes] |
rs7780131 | 0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs7789051 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs7796408 | 0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs7796434 | 0.81[EUR][1000 genomes] |
rs9654951 | 0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs9654952 | 0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9654953 | 0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9655183 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs9655184 | 0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9655185 | 0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs9655186 | 0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1014983 | chr3:59884024-60558331 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
2 | nsv590387 | chr3:59890976-60481459 | Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
3 | nsv529602 | chr3:60088353-60830769 | Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
4 | nsv590396 | chr3:60330356-60447990 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
5 | nsv997531 | chr3:60340440-60504992 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | nsv1010314 | chr3:60367530-60459926 | Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
7 | nsv590397 | chr3:60367607-60458976 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
8 | nsv876849 | chr3:60372144-60432292 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
9 | nsv590398 | chr3:60385765-60458976 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
10 | nsv1013687 | chr3:60388277-60458608 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
11 | nsv1008235 | chr3:60388277-60558331 | Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
12 | nsv460569 | chr3:60388322-60558331 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
13 | nsv590399 | chr3:60388322-60558331 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
14 | esv2763271 | chr3:60391557-60558331 | Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
15 | nsv999284 | chr3:60391557-60558331 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
16 | nsv1002453 | chr3:60391557-60558331 | Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
17 | nsv948513 | chr3:60391557-60558331 | Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
18 | nsv1008661 | chr3:60397271-60558331 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
19 | nsv1005085 | chr3:60397612-60532440 | Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
20 | nsv876851 | chr3:60399322-60447990 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
21 | nsv876852 | chr3:60399322-60458838 | Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
22 | nsv590400 | chr3:60405004-60447369 | Enhancers Weak transcription Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
23 | nsv1007745 | chr3:60414407-60434882 | Weak transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
24 | nsv460570 | chr3:60418362-60465139 | Weak transcription Enhancers Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
25 | nsv590401 | chr3:60418362-60465139 | Enhancers Weak transcription Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
26 | nsv876853 | chr3:60420665-60512889 | Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer | Chromatin interactive region | n/a | inside rSNPs | diseases |
27 | nsv1010907 | chr3:60425237-60557503 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
28 | nsv1002978 | chr3:60425237-60558331 | Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:60420400-60430600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |