Variant report
| Variant | rs1891566 |
|---|---|
| Chromosome Location | chr1:241949354-241949355 |
| allele | G/T |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:241945242..241947765-chr1:241948553..241950235,2 | K562 | blood: | |
| 2 | chr1:241942426..241944298-chr1:241948267..241949893,2 | K562 | blood: | |
| 3 | chr1:241945232..241947765-chr1:241948513..241950053,2 | K562 | blood: | |
| 4 | chr1:241938342..241941213-chr1:241948458..241951421,2 | MCF-7 | breast: |
| No data |
| No data |
| No data |
| No data |
| rs_ID | r2[population] |
|---|---|
| rs1017018 | 0.84[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs10737867 | 0.81[ASN][1000 genomes] |
| rs10737868 | 0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs10737869 | 0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs10802990 | 0.89[JPT][hapmap] |
| rs10926564 | 0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs10926569 | 0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes] |
| rs11809239 | 0.85[ASN][1000 genomes] |
| rs12022825 | 0.94[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs12038477 | 0.94[CEU][hapmap];0.84[EUR][1000 genomes] |
| rs12042255 | 0.84[JPT][hapmap];0.84[EUR][1000 genomes] |
| rs1418764 | 0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes] |
| rs3922506 | 0.85[CHB][hapmap] |
| rs4129118 | 0.89[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs4428871 | 0.99[ASN][1000 genomes] |
| rs4658661 | 0.81[CHB][hapmap];0.81[JPT][hapmap] |
| rs55865277 | 0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs56396922 | 0.86[ASN][1000 genomes] |
| rs59836392 | 0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs6413961 | 0.86[CHB][hapmap];0.90[JPT][hapmap] |
| rs6429300 | 0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs6429301 | 0.86[CHB][hapmap];0.90[JPT][hapmap] |
| rs6429304 | 0.81[ASN][1000 genomes] |
| rs6429305 | 0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs6429312 | 0.96[ASN][1000 genomes] |
| rs6429313 | 0.99[ASN][1000 genomes] |
| rs6429314 | 0.98[ASN][1000 genomes] |
| rs6660811 | 0.90[JPT][hapmap] |
| rs6666953 | 0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs6669036 | 0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes] |
| rs6669629 | 0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs6680142 | 0.85[CHB][hapmap];0.89[JPT][hapmap] |
| rs6695661 | 0.85[CHB][hapmap];0.89[JPT][hapmap] |
| rs6696527 | 0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs72755248 | 0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes] |
| rs72755251 | 0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs7418198 | 0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs7418599 | 0.85[CHB][hapmap];0.89[JPT][hapmap] |
| rs7418764 | 0.94[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap] |
| rs7526583 | 0.84[EUR][1000 genomes] |
| rs7526586 | 0.80[AMR][1000 genomes];0.83[EUR][1000 genomes] |
| rs7530794 | 0.81[ASN][1000 genomes] |
| rs7530797 | 0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes] |
| rs7533622 | 0.98[ASN][1000 genomes] |
| rs7551270 | 0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs9428515 | 1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9428516 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
| rs9428520 | 1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9428521 | 1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9428524 | 0.83[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs9428525 | 0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs9428527 | 0.94[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs9428529 | 0.84[EUR][1000 genomes] |
| rs9428891 | 0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs9428892 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9428893 | 0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs9428894 | 0.83[CEU][hapmap] |
| rs9428898 | 1.00[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs9428899 | 0.82[EUR][1000 genomes] |
| rs9428900 | 1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes] |
| rs9428901 | 0.83[EUR][1000 genomes];0.87[ASN][1000 genomes] |
| rs9428902 | 0.94[CEU][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes] |
| rs952084 | 1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv918034 | chr1:241072791-242005532 | Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 32 gene(s) | inside rSNPs | diseases |
| 2 | nsv997966 | chr1:241100739-242087629 | Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 40 gene(s) | inside rSNPs | diseases |
| 3 | nsv1002214 | chr1:241458939-242099790 | Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 37 gene(s) | inside rSNPs | diseases |
| 4 | nsv873368 | chr1:241533392-242195928 | Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 36 gene(s) | inside rSNPs | diseases |
| 5 | nsv873372 | chr1:241690554-242438293 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 40 gene(s) | inside rSNPs | diseases |
| 6 | nsv948409 | chr1:241830086-242489705 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
| 7 | nsv528015 | chr1:241865219-242070731 | Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| 8 | nsv1008300 | chr1:241886514-242171611 | Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 19 gene(s) | inside rSNPs | diseases |
| 9 | esv2762521 | chr1:241891040-242074222 | Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
| 10 | nsv873373 | chr1:241939069-242027500 | Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:241947600-241950400 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
| 2 | chr1:241948200-241952600 | Enhancers | Breast Myoepithelial Primary Cells | Breast |
| 3 | chr1:241948400-241949400 | Enhancers | Brain Cingulate Gyrus | brain |
| 4 | chr1:241948400-241950000 | Enhancers | Colon Smooth Muscle | Colon |
| 5 | chr1:241948600-241950000 | Enhancers | Fetal Heart | heart |
| 6 | chr1:241949000-241949400 | Enhancers | Rectal Smooth Muscle | rectum |
| 7 | chr1:241949200-241951200 | Weak transcription | Brain Hippocampus Middle | brain |
| 8 | chr1:241949200-241951400 | Weak transcription | Brain Inferior Temporal Lobe | brain |





