Variant report
Variant | rs56247566 |
---|---|
Chromosome Location | chr7:48524339-48524340 |
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 |
No data |
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No data |
rs_ID | r2[population] |
---|---|
rs10254742 | 0.84[EUR][1000 genomes] |
rs10256975 | 0.84[EUR][1000 genomes] |
rs10499682 | 0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs10499683 | 0.84[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs12667982 | 0.87[ASN][1000 genomes] |
rs12669930 | 0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12669976 | 0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs12674031 | 0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1316821 | 0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs13237819 | 0.87[ASN][1000 genomes] |
rs1405920 | 0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1433506 | 0.84[EUR][1000 genomes] |
rs1527840 | 0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs17132335 | 0.84[EUR][1000 genomes] |
rs17132373 | 0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs17132376 | 0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs17132383 | 0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs17132388 | 0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs17132402 | 0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs17132417 | 0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs17132425 | 0.87[ASN][1000 genomes] |
rs17132430 | 0.87[ASN][1000 genomes] |
rs1918600 | 0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs1918606 | 0.80[ASN][1000 genomes] |
rs1918613 | 0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2217710 | 0.84[EUR][1000 genomes] |
rs28481588 | 0.84[EUR][1000 genomes] |
rs2885484 | 0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4144061 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs4144068 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs55650796 | 0.84[EUR][1000 genomes] |
rs56134922 | 0.83[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs56232183 | 0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs58054917 | 0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs58553345 | 0.84[EUR][1000 genomes] |
rs59227959 | 0.87[ASN][1000 genomes] |
rs60813775 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes] |
rs61562434 | 0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs66501875 | 0.84[EUR][1000 genomes] |
rs66898358 | 0.84[EUR][1000 genomes] |
rs67001204 | 0.84[ASN][1000 genomes] |
rs67132562 | 0.84[EUR][1000 genomes] |
rs67163301 | 0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs67223065 | 0.84[EUR][1000 genomes] |
rs67985903 | 0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs6968069 | 0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6972440 | 0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6973231 | 0.84[EUR][1000 genomes] |
rs73107574 | 0.84[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7357308 | 0.84[EUR][1000 genomes] |
rs7776966 | 0.87[ASN][1000 genomes] |
rs7781150 | 0.88[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs7791044 | 0.87[ASN][1000 genomes] |
rs7792728 | 0.87[ASN][1000 genomes] |
rs7797852 | 0.87[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 | 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 |
9 | 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 |
10 | nsv888007 | chr7:48467581-48533508 | Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
11 | nsv830992 | chr7:48497408-48686442 | Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionmiRNA target site | 1 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:48511600-48554400 | Strong transcription | Primary neutrophils fromperipheralblood | blood |
2 | chr7:48520800-48536000 | Weak transcription | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
3 | chr7:48523800-48574000 | Weak transcription | Primary hematopoietic stem cells | blood |
4 | chr7:48524200-48524400 | Enhancers | H1 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
5 | chr7:48524200-48524800 | Active TSS | Fetal Lung | lung |