Variant report
Variant | rs3890819 |
---|---|
Chromosome Location | chr7:40461332-40461333 |
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 |
No data |
No data |
No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10234636 | 1.00[CHB][hapmap];0.94[JPT][hapmap] |
rs10245007 | 0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10250287 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10256791 | 0.93[CEU][hapmap] |
rs10951634 | 0.92[CEU][hapmap];0.84[JPT][hapmap] |
rs11531505 | 0.99[ASN][1000 genomes] |
rs11766930 | 0.86[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs11772069 | 0.92[CEU][hapmap];0.84[JPT][hapmap] |
rs11980965 | 0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12234460 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes] |
rs12531683 | 0.99[ASN][1000 genomes] |
rs12532479 | 1.00[CHB][hapmap];0.94[JPT][hapmap] |
rs12533531 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes] |
rs12538229 | 0.96[ASN][1000 genomes] |
rs12669577 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes] |
rs12670267 | 0.94[ASN][1000 genomes] |
rs12673516 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs12701822 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs1319467 | 0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
rs16880229 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs17171680 | 0.93[CEU][hapmap] |
rs17171683 | 0.84[JPT][hapmap] |
rs17171686 | 0.84[JPT][hapmap] |
rs17171693 | 0.84[JPT][hapmap] |
rs17171694 | 0.84[JPT][hapmap] |
rs17171696 | 0.84[JPT][hapmap] |
rs17171703 | 0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes] |
rs17171704 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs17171705 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs17171710 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs2190261 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs2329772 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4143205 | 0.92[CEU][hapmap];0.84[JPT][hapmap] |
rs4379368 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs4421260 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs4434532 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs4452702 | 0.93[CEU][hapmap];0.84[JPT][hapmap] |
rs4526265 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs4563791 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4612243 | 0.85[CEU][hapmap];0.84[JPT][hapmap] |
rs4723954 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes] |
rs59682057 | 0.97[ASN][1000 genomes] |
rs6462972 | 0.92[CEU][hapmap];0.84[JPT][hapmap] |
rs6462976 | 0.92[CEU][hapmap];0.84[JPT][hapmap] |
rs6945101 | 0.93[CEU][hapmap] |
rs6965764 | 0.92[CEU][hapmap];0.84[JPT][hapmap] |
rs7782189 | 0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7807217 | 0.92[CEU][hapmap] |
rs9690724 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1030648 | chr7:40218618-41032599 | Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
2 | nsv887985 | chr7:40265510-40586674 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
3 | nsv817404 | chr7:40295934-40573605 | Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
4 | nsv949540 | chr7:40321357-40528147 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription | Chromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
5 | esv34484 | chr7:40383159-40489083 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
6 | esv2757223 | chr7:40384030-40497278 | Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
7 | esv2759526 | chr7:40384030-40497278 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
8 | nsv8081 | chr7:40393228-40486239 | Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
9 | nsv1016800 | chr7:40409214-40470294 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
10 | nsv1015701 | chr7:40409214-40474936 | Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats | Chromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
11 | nsv830969 | chr7:40422576-40582389 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription | Chromatin interactive regionlncRNA | n/a | inside rSNPs | diseases |
12 | nsv1027075 | chr7:40438478-40479723 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats | n/a | n/a | inside rSNPs | diseases |
13 | nsv1026022 | chr7:40440560-40479066 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
14 | esv2761320 | chr7:40440560-40479723 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
15 | nsv1032028 | chr7:40440560-40479723 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
16 | nsv1032883 | chr7:40440560-40489083 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
17 | nsv1019992 | chr7:40443653-40479723 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS | n/a | n/a | inside rSNPs | diseases |
18 | nsv1017615 | chr7:40445480-40570791 | Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:40458400-40473200 | Weak transcription | Aorta | Aorta |
2 | chr7:40459800-40467400 | Weak transcription | Rectal Mucosa Donor 29 | rectum |
3 | chr7:40459800-40469000 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
4 | chr7:40460000-40467400 | Weak transcription | Rectal Mucosa Donor 31 | rectum |
5 | chr7:40460400-40464800 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
6 | chr7:40460400-40465000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
7 | chr7:40460400-40465600 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
8 | chr7:40460800-40461400 | Enhancers | HUES48 Cell Line | embryonic stem cell |
9 | chr7:40461000-40462200 | Enhancers | ES-I3 Cell Line | embryonic stem cell |
10 | chr7:40461200-40461600 | Enhancers | HUES6 Cell Line | embryonic stem cell |