Variant report
Variant | rs7299134 |
---|---|
Chromosome Location | chr12:50243672-50243673 |
allele | A/G |
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 | chr12:50242107..50244595-chr12:50247225..50249160,2 | K562 | blood: | |
2 | chr12:50234719..50238725-chr12:50239270..50244656,10 | MCF-7 | breast: | |
3 | chr12:50235324..50238742-chr12:50239351..50243802,4 | MCF-7 | breast: | |
4 | chr12:50237689..50241019-chr12:50242917..50244785,3 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000186666 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10875980 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10875982 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs11169176 | 0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs11169182 | 0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7302855 | 0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7303074 | 0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes] |
rs7305229 | 0.90[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs7316671 | 0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes] |
rs7316688 | 0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1045327 | chr12:49975040-50551375 | Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 170 gene(s) | inside rSNPs | diseases |
2 | nsv541490 | chr12:49975040-50551375 | Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 170 gene(s) | inside rSNPs | diseases |
3 | nsv522972 | chr12:50196394-50410831 | Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
4 | nsv530671 | chr12:50233858-50708991 | Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 117 gene(s) | inside rSNPs | diseases |
5 | nsv832407 | chr12:50243268-50412236 | Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 33 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:50237600-50261200 | Weak transcription | Right Atrium | heart |