Variant report
Variant | rs73055490 |
---|---|
Chromosome Location | chr7:12775221-12775222 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:6 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr7:12774986..12777749-chr7:12783084..12785237,2 | K562 | blood: | |
2 | chr7:12775054..12776662-chr7:12793532..12795288,2 | K562 | blood: | |
3 | chr7:12775054..12776736-chr7:12793008..12795288,3 | K562 | blood: | |
4 | chr7:12729128..12735523-chr7:12765929..12775781,12 | K562 | blood: | |
5 | chr7:12773325..12775846-chr7:12777370..12779405,2 | K562 | blood: | |
6 | chr7:12773603..12776314-chr7:12785559..12788472,3 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs11971932 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs11971985 | 0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs11974025 | 0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs11974943 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs11977551 | 0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs11978862 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs11981713 | 0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes] |
rs12155360 | 0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12540769 | 0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs1524937 | 0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs17616899 | 0.82[AFR][1000 genomes] |
rs2058047 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs2058048 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs34655971 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs55694038 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs56083439 | 0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs57829157 | 0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs6954577 | 0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6961321 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs6967207 | 0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73055478 | 0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73055481 | 0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs73055489 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs73061017 | 0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs73061027 | 0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs7784389 | 0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs7807269 | 0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1024554 | chr7:12214722-12967418 | Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 58 gene(s) | inside rSNPs | diseases |
2 | nsv538735 | chr7:12214722-12967418 | Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 58 gene(s) | inside rSNPs | diseases |
3 | nsv830907 | chr7:12661239-12818250 | Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
4 | nsv932020 | chr7:12676890-13239551 | Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 42 gene(s) | inside rSNPs | diseases |
5 | nsv830908 | chr7:12695007-12870475 | Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 38 gene(s) | inside rSNPs | diseases |
6 | nsv868830 | chr7:12712753-13517417 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 43 gene(s) | inside rSNPs | diseases |
7 | esv2422346 | chr7:12739291-12883550 | Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
8 | nsv1027501 | chr7:12743592-12927109 | Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
9 | nsv887641 | chr7:12747443-12782062 | Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS | Chromatin interactive region | 4 gene(s) | inside rSNPs | n/a |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr7:12771200-12789400 | Weak transcription | Psoas Muscle | Psoas |
2 | chr7:12772000-12777000 | Weak transcription | Hela-S3 | cervix |
3 | chr7:12774200-12775400 | Enhancers | K562 | blood |
4 | chr7:12774200-12775600 | Enhancers | A549 | lung |
5 | chr7:12774600-12777000 | Weak transcription | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |