Variant report
Variant | rs28808573 |
---|---|
Chromosome Location | chr12:49693428-49693429 |
allele | A/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:9)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:9 , 50 per page) page:
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No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr12:49691489..49693674-chr12:49738441..49740198,2 | MCF-7 | breast: | |
2 | chr12:49692836..49694938-chr12:49697087..49698984,2 | K562 | blood: | |
3 | chr12:49656941..49662685-chr12:49687034..49693573,13 | MCF-7 | breast: | |
4 | chr12:49685493..49694205-chr12:49728829..49734805,16 | K562 | blood: | |
5 | chr12:49664091..49667882-chr12:49690109..49694759,4 | K562 | blood: | |
6 | chr12:49680691..49694205-chr12:49725987..49738512,25 | K562 | blood: | |
7 | chr12:49691968..49693557-chr12:49739868..49741612,2 | MCF-7 | breast: | |
8 | chr12:49686970..49688701-chr12:49692528..49694261,2 | K562 | blood: | |
9 | chr12:49657190..49661099-chr12:49688432..49694179,9 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000186897 | Chromatin interaction |
ENSG00000258232 | Chromatin interaction |
ENSG00000178401 | Chromatin interaction |
ENSG00000167553 | Chromatin interaction |
ENSG00000258101 | Chromatin interaction |
ENSG00000135406 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs11835037 | 0.82[AMR][1000 genomes] |
rs12301545 | 0.82[AMR][1000 genomes] |
rs12315095 | 0.82[AMR][1000 genomes] |
rs12315130 | 0.82[AMR][1000 genomes] |
rs12317532 | 0.82[AMR][1000 genomes] |
rs12322335 | 0.82[AMR][1000 genomes] |
rs2236746 | 0.83[AMR][1000 genomes] |
rs28543370 | 0.82[AMR][1000 genomes] |
rs61023481 | 0.82[AMR][1000 genomes] |
rs7136538 | 0.82[AMR][1000 genomes] |
rs7136945 | 0.82[AMR][1000 genomes] |
rs7294873 | 0.82[AMR][1000 genomes] |
rs7295247 | 0.82[AMR][1000 genomes] |
rs7342318 | 0.83[AMR][1000 genomes] |
rs7342370 | 0.82[AMR][1000 genomes] |
rs7342384 | 0.82[AMR][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv1051161 | chr12:49314550-49828473 | Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 322 gene(s) | inside rSNPs | diseases |
2 | nsv541489 | chr12:49314550-49828473 | Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 322 gene(s) | inside rSNPs | diseases |
3 | nsv1036452 | chr12:49376285-49867760 | Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 315 gene(s) | inside rSNPs | diseases |
4 | nsv428801 | chr12:49536659-49744884 | Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 145 gene(s) | inside rSNPs | diseases |
5 | nsv1042122 | chr12:49678529-49823168 | Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 54 gene(s) | inside rSNPs | diseases |
6 | nsv1039176 | chr12:49678529-49832618 | Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 55 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr12:49692600-49695000 | Weak transcription | K562 | blood |