Variant report
Variant | rs12718302 |
---|---|
Chromosome Location | chr7:48242800-48242801 |
allele | C/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] |
---|---|
rs10229354 | 0.88[AMR][1000 genomes] |
rs10248319 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs10252745 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs10255965 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs12718291 | 0.82[AMR][1000 genomes] |
rs12718303 | 0.83[AMR][1000 genomes] |
rs12718304 | 0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs12718306 | 0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs13227530 | 0.84[AMR][1000 genomes] |
rs13227532 | 0.84[AMR][1000 genomes] |
rs13228112 | 0.89[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs13228130 | 0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs13229079 | 0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs13232020 | 0.83[AMR][1000 genomes] |
rs13239697 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs13243393 | 0.89[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs28588066 | 0.89[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs34083053 | 0.89[AMR][1000 genomes];0.82[EUR][1000 genomes] |
rs34427915 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs34487066 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs34705201 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs34782923 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs34938570 | 0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs34940245 | 0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs34950764 | 0.89[AMR][1000 genomes] |
rs34978094 | 0.88[AMR][1000 genomes] |
rs35274735 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs35519500 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs35586320 | 0.89[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs35736166 | 0.88[AMR][1000 genomes] |
rs4409351 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs67466763 | 0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs68088838 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs6948004 | 0.88[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs6960463 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |
rs73339660 | 0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs7776850 | 0.88[AMR][1000 genomes] |
rs7791246 | 0.88[AMR][1000 genomes] |
rs7806597 | 0.88[AMR][1000 genomes] |
rs7812246 | 0.88[AMR][1000 genomes];0.80[EUR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1026223 | chr7:47560728-48243287 | Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
2 | nsv470221 | chr7:47917495-48354363 | Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
3 | nsv464442 | chr7:47917495-48354820 | Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
4 | nsv606893 | chr7:47917495-48354820 | Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
5 | nsv1027414 | chr7:48117684-48438543 | Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
6 | nsv1033738 | chr7:48143988-48349357 | Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 3 gene(s) | inside rSNPs | diseases |
7 | 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 |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:48230600-48246200 | Strong transcription | Primary neutrophils fromperipheralblood | blood |
2 | chr7:48240200-48244200 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
3 | chr7:48241400-48243200 | Weak transcription | hESC Derived CD56+ Ectoderm Cultured Cells | ES cell derived |