Variant report
Variant | rs2273601 |
---|---|
Chromosome Location | chr6:117730819-117730820 |
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] |
---|---|
rs13192511 | 0.94[JPT][hapmap] |
rs13195478 | 0.83[JPT][hapmap] |
rs13195673 | 0.89[JPT][hapmap] |
rs13205986 | 0.84[JPT][hapmap] |
rs13207962 | 0.84[JPT][hapmap] |
rs13210963 | 0.82[JPT][hapmap] |
rs13211956 | 0.86[JPT][hapmap] |
rs1321817 | 0.90[ASN][1000 genomes] |
rs13218378 | 0.89[JPT][hapmap] |
rs17079188 | 0.83[AFR][1000 genomes];0.93[EUR][1000 genomes] |
rs17079281 | 0.89[JPT][hapmap] |
rs1885064 | 0.94[JPT][hapmap] |
rs2104064 | 0.89[JPT][hapmap] |
rs2243 | 0.87[CEU][hapmap];0.88[TSI][hapmap] |
rs34925922 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs3777980 | 0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes] |
rs3777982 | 0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes] |
rs6930292 | 0.89[JPT][hapmap];0.89[LWK][hapmap];0.82[YRI][hapmap] |
rs722359 | 0.84[JPT][hapmap] |
rs7746536 | 0.84[JPT][hapmap] |
rs7756187 | 0.94[JPT][hapmap] |
rs7763979 | 0.84[JPT][hapmap] |
rs9374658 | 0.87[CEU][hapmap];0.88[TSI][hapmap] |
rs9481719 | 0.94[JPT][hapmap] |
rs9489152 | 0.90[JPT][hapmap] |
rs9489155 | 0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs9489157 | 0.90[AFR][1000 genomes];0.84[ASN][1000 genomes] |
rs9489158 | 0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs9489166 | 0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs9489173 | 0.86[AFR][1000 genomes];0.93[EUR][1000 genomes] |
rs9489193 | 0.83[ASW][hapmap];0.94[JPT][hapmap];0.87[LWK][hapmap];0.84[MKK][hapmap];0.93[YRI][hapmap] |
rs9489199 | 0.94[JPT][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv532050 | chr6:117528154-118203005 | ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 23 gene(s) | inside rSNPs | diseases |
2 | esv2763593 | chr6:117727550-117741495 | Weak transcription Strong transcription Enhancers | Chromatin interactive region | n/a | inside rSNPs | diseases |
3 | nsv1032651 | chr6:117727550-117741495 | Enhancers Weak transcription Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
4 | nsv1025551 | chr6:117730592-117741495 | Weak transcription Enhancers Strong transcription | Chromatin interactive region | n/a | inside rSNPs | diseases |
Disease | PMID | Source |
---|---|---|
QT interval (interaction) | 23459443 | GWAS catalog |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs2273601 | GOPC | cis | cerebellum | SCAN |
rs2273601 | C6orf204 | cis | cerebellum | SCAN |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr6:117692600-117735800 | Weak transcription | Bone Marrow Derived Cultured Mesenchymal Stem Cells | Bone marrow |
2 | chr6:117723200-117737600 | Weak transcription | Lung | lung |
3 | chr6:117729000-117732600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
4 | chr6:117730600-117731400 | Strong transcription | HSMM | muscle |