Variant report
Variant | rs55661481 |
---|---|
Chromosome Location | chr7:48455164-48455165 |
allele | A/G |
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] |
---|---|
rs1368654 | 0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs17132314 | 0.89[AFR][1000 genomes] |
rs17662082 | 0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs17662100 | 0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs17662106 | 0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes] |
rs17662118 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs17729579 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs17729597 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs17729627 | 0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs17729647 | 0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs1865195 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs1865196 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs28533168 | 0.83[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs28647224 | 0.85[AFR][1000 genomes];0.82[AMR][1000 genomes] |
rs28754827 | 0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes] |
rs55655908 | 1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs56233541 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs56372930 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs62447260 | 0.83[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62447261 | 0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62447262 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62447263 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62447264 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62447265 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62447266 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62447267 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes] |
rs62447268 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs62447269 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs62447270 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs62447271 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs62447272 | 0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs62447273 | 0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs62447274 | 0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes] |
rs62449234 | 0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs62449236 | 0.83[AMR][1000 genomes];0.90[ASN][1000 genomes] |
rs62449237 | 0.83[AMR][1000 genomes];0.90[ASN][1000 genomes] |
rs62449238 | 0.83[AMR][1000 genomes];0.90[ASN][1000 genomes] |
rs6951337 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs6951346 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs6955839 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs6966506 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs6966723 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs6967055 | 0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs6970040 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs73099365 | 0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs7785052 | 0.83[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs7785745 | 0.83[AMR][1000 genomes];0.90[ASN][1000 genomes] |
rs7789493 | 0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv817336 | chr7:48238233-48563988 | Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
2 | nsv1022980 | chr7:48243227-48567060 | Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
3 | nsv538833 | chr7:48243227-48567060 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
4 | nsv1022578 | chr7:48244414-48584664 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv1023575 | chr7:48244414-48586685 | Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
6 | nsv1015183 | chr7:48244414-48588598 | Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
7 | nsv1032221 | chr7:48302789-48546684 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
8 | nsv533811 | chr7:48313757-48482470 | Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
9 | nsv1015399 | chr7:48321542-48544359 | Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
10 | esv2761325 | chr7:48409639-48557382 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:48440200-48460200 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
2 | chr7:48447600-48457400 | Strong transcription | Primary neutrophils fromperipheralblood | blood |
3 | chr7:48449400-48467800 | Weak transcription | Primary hematopoietic stem cells | blood |
4 | chr7:48452200-48460200 | Weak transcription | Breast Myoepithelial Primary Cells | Breast |
5 | chr7:48454000-48458400 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
6 | chr7:48454400-48458600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
7 | chr7:48454800-48458600 | Weak transcription | HMEC | breast |
8 | chr7:48454800-48458600 | Weak transcription | NHEK | skin |