Variant report
Variant | rs17026446 |
---|---|
Chromosome Location | chr2:40881276-40881277 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:1 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr2:40869635..40872329-chr2:40880298..40882464,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11124754 | 0.91[ASN][1000 genomes] |
rs11124756 | 1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs11491284 | 0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs11689010 | 0.83[ASN][1000 genomes] |
rs11887013 | 0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs11898380 | 0.87[ASN][1000 genomes] |
rs11899009 | 0.88[ASN][1000 genomes] |
rs12469563 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12474948 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs12477643 | 0.85[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs12712704 | 0.89[ASN][1000 genomes] |
rs12712709 | 0.83[ASN][1000 genomes] |
rs1541575 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17026319 | 0.88[AMR][1000 genomes];1.00[EUR][1000 genomes] |
rs17026434 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs17026480 | 0.88[AFR][1000 genomes];0.85[EUR][1000 genomes] |
rs17026537 | 0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17026541 | 0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17026544 | 0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs17026584 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs17026612 | 0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs17026616 | 1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs17026644 | 0.88[ASN][1000 genomes] |
rs1861304 | 0.81[AFR][1000 genomes] |
rs1861307 | 0.83[ASN][1000 genomes] |
rs1990617 | 0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2005413 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2052260 | 0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2110789 | 0.82[AMR][1000 genomes] |
rs2160262 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs2216043 | 0.83[ASN][1000 genomes] |
rs2888699 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs3911438 | 1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap] |
rs3915716 | 0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs42787 | 0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs42794 | 0.89[YRI][hapmap] |
rs42799 | 0.81[YRI][hapmap] |
rs4597578 | 0.85[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs4610094 | 0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs4952643 | 0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs4952644 | 0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs5022306 | 0.85[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs55973449 | 0.85[EUR][1000 genomes] |
rs56322026 | 0.85[EUR][1000 genomes] |
rs56407568 | 0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs57225071 | 0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs57569001 | 0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs57770208 | 0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs57955071 | 0.85[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs57988012 | 0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs59213571 | 0.81[AFR][1000 genomes] |
rs59892061 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs60373384 | 0.85[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs61037496 | 0.81[AFR][1000 genomes] |
rs61275311 | 0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs6544345 | 0.90[ASN][1000 genomes] |
rs6714287 | 0.81[AFR][1000 genomes] |
rs72945712 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs72945720 | 0.89[AFR][1000 genomes] |
rs72945739 | 0.81[AFR][1000 genomes] |
rs7369946 | 0.95[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs7369960 | 0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs7423585 | 0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs7581499 | 1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs7608684 | 0.87[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv529606 | chr2:40206280-40896881 | Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
2 | nsv873911 | chr2:40423454-41161464 | ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
3 | nsv873917 | chr2:40710953-41015998 | Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
4 | nsv873918 | chr2:40805427-40890416 | Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv528865 | chr2:40805427-41218810 | Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
6 | nsv470454 | chr2:40815238-40896385 | ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
7 | nsv456429 | chr2:40823026-40896385 | Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
8 | nsv581507 | chr2:40823026-40896385 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
9 | nsv581508 | chr2:40833142-40890416 | Enhancers Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
10 | nsv873920 | chr2:40833142-40890416 | Weak transcription Enhancers Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
11 | nsv873923 | chr2:40835285-40890416 | Enhancers Weak transcription Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
12 | nsv873924 | chr2:40835285-40926138 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | n/a |
13 | nsv873925 | chr2:40835285-40966719 | Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | n/a |
14 | nsv873926 | chr2:40835285-40986860 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
15 | nsv873927 | chr2:40835285-41034225 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
16 | nsv470455 | chr2:40835285-41059164 | Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
17 | nsv873928 | chr2:40835285-41075134 | Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
18 | nsv873929 | chr2:40835285-41180690 | Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
19 | nsv581513 | chr2:40843613-40896385 | Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats | Chromatin interactive regionlncRNA | n/a | inside rSNPs | n/a |
20 | nsv873931 | chr2:40869165-40966719 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats | Chromatin interactive region | 1 gene(s) | inside rSNPs | n/a |
21 | nsv873932 | chr2:40880043-40912597 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS | Chromatin interactive region | n/a | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr2:40880000-40882200 | Enhancers | NHEK | skin |
2 | chr2:40880400-40882400 | Enhancers | Foreskin Keratinocyte Primary Cells skin03 | Skin |
3 | chr2:40880800-40881800 | Weak transcription | HMEC | breast |
4 | chr2:40880800-40883000 | Enhancers | Muscle Satellite Cultured Cells | -- |
5 | chr2:40881000-40881400 | Enhancers | NHDF-Ad | bronchial |
6 | chr2:40881000-40881800 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
7 | chr2:40881000-40882000 | Enhancers | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
8 | chr2:40881200-40882000 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |