Variant report
| Variant | rs35363238 |
|---|---|
| Chromosome Location | chr1:242112602-242112603 |
| allele | C/G |
| Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:1)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:1 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr1:242101934..242104578-chr1:242110497..242113039,2 | K562 | blood: |
| No data |
| No data |
| No data |
| No data |
| rs_ID | r2[population] |
|---|---|
| rs28385880 | 0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs28392846 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs28413917 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs28438742 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs28439042 | 0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs28444922 | 0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs28472777 | 0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs28544076 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs28615546 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes] |
| rs28624657 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs28626680 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs28631891 | 0.83[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs28661887 | 0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs28662297 | 0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs28662847 | 0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs28710235 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs28718445 | 0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs34212793 | 0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
| rs34518223 | 0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs34735536 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs35027076 | 0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes] |
| rs35341580 | 0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs35454394 | 0.80[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs35524854 | 0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs35536186 | 0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs35892843 | 0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes] |
| rs35896847 | 0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes] |
| rs36083518 | 0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs3851305 | 0.81[ASN][1000 genomes] |
| rs3851306 | 0.84[EUR][1000 genomes] |
| rs3851307 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs3862974 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs3862975 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs3915586 | 0.81[ASN][1000 genomes] |
| rs59504163 | 0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes] |
| rs60043862 | 0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes] |
| rs66861684 | 0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
| rs67802349 | 0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
| rs695234 | 0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs695235 | 0.83[AMR][1000 genomes];0.86[ASN][1000 genomes] |
| rs71535345 | 0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes] |
| rs71648675 | 0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs72757276 | 0.91[AMR][1000 genomes];0.85[EUR][1000 genomes] |
| rs72757280 | 0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes] |
| rs955535 | 0.88[EUR][1000 genomes];0.86[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | 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 |
| 2 | 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 |
| 3 | 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 |
| 4 | 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 |
| 5 | nsv1008886 | chr1:242015591-242176983 | Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 6 | esv2750830 | chr1:242025098-242303357 | Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
| 7 | esv2750831 | chr1:242025098-242332959 | Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 12 gene(s) | inside rSNPs | diseases |
| 8 | nsv1002309 | chr1:242042242-242295635 | Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
| 9 | nsv870442 | chr1:242105882-242136576 | Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | n/a |
| No data |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr1:242106400-242113600 | Weak transcription | NHDF-Ad | bronchial |
| 2 | chr1:242111000-242113800 | Weak transcription | Fetal Muscle Leg | muscle |
| 3 | chr1:242111200-242113000 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
| 4 | chr1:242111200-242113600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |





