Variant report
Variant | rs28782219 |
---|---|
Chromosome Location | chr7:80174633-80174634 |
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 |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs10215822 | 0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes] |
rs10215825 | 0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs10229705 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10239813 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10249397 | 0.95[EUR][1000 genomes] |
rs10265053 | 0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs10278120 | 0.95[EUR][1000 genomes] |
rs12531594 | 0.94[AFR][1000 genomes];0.96[EUR][1000 genomes] |
rs12669206 | 0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs13222156 | 0.94[AFR][1000 genomes];0.96[EUR][1000 genomes] |
rs13222395 | 0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs13237390 | 0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs13242267 | 0.96[EUR][1000 genomes] |
rs13245374 | 0.94[AFR][1000 genomes];0.96[EUR][1000 genomes] |
rs1464794 | 0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs1524601 | 0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1851934 | 0.80[EUR][1000 genomes] |
rs1851937 | 0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1931693 | 0.96[EUR][1000 genomes] |
rs1965524 | 0.91[AFR][1000 genomes];0.95[EUR][1000 genomes] |
rs1965525 | 0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2091178 | 0.95[EUR][1000 genomes] |
rs2091180 | 0.90[AFR][1000 genomes];0.95[EUR][1000 genomes] |
rs2210684 | 0.96[EUR][1000 genomes] |
rs2366739 | 0.80[EUR][1000 genomes] |
rs2366741 | 0.94[AFR][1000 genomes];0.96[EUR][1000 genomes] |
rs28850277 | 0.94[AFR][1000 genomes];0.96[EUR][1000 genomes] |
rs28872565 | 0.96[EUR][1000 genomes] |
rs35136290 | 0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs4728156 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs4728157 | 0.90[AMR][1000 genomes];0.94[EUR][1000 genomes] |
rs59057809 | 0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs62459940 | 0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6467245 | 0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6944746 | 0.91[AFR][1000 genomes];0.95[EUR][1000 genomes] |
rs6945398 | 1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs6961824 | 0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7778094 | 0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7797266 | 0.90[AFR][1000 genomes];0.95[EUR][1000 genomes] |
rs819446 | 0.83[EUR][1000 genomes] |
rs819447 | 0.81[EUR][1000 genomes] |
rs819451 | 0.81[EUR][1000 genomes] |
rs819452 | 0.81[EUR][1000 genomes] |
rs819453 | 0.82[EUR][1000 genomes] |
rs819454 | 0.83[EUR][1000 genomes] |
rs847544 | 0.84[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv429785 | chr7:79589749-80177049 | Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 9 gene(s) | inside rSNPs | diseases |
2 | nsv1030961 | chr7:80032525-80197468 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
3 | nsv538991 | chr7:80032525-80197468 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
4 | nsv949205 | chr7:80039695-80211200 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
5 | nsv888524 | chr7:80107798-80723062 | Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 20 gene(s) | inside rSNPs | diseases |
6 | nsv831043 | chr7:80119414-80322092 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 3 gene(s) | inside rSNPs | diseases |
7 | nsv948605 | chr7:80119690-80298887 | Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
8 | nsv1020682 | chr7:80120651-80297697 | Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
9 | nsv888525 | chr7:80148668-80232471 | Enhancers Weak transcription Active TSS Flanking 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 | chr7:80168000-80181800 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr7:80172800-80177800 | Weak transcription | NHDF-Ad | bronchial |
3 | chr7:80172800-80178000 | Weak transcription | Osteobl | bone |
4 | chr7:80173000-80176600 | ZNF genes & repeats | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |