Variant report

Variant	rs28754342
Chromosome Location	chr8:52565331-52565332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10081607	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10090358	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10091349	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10092112	0.89[EUR][1000 genomes]
rs10094116	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10113360	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11990577	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11995986	0.94[EUR][1000 genomes]
rs16919838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28455687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28788017	1.00[EUR][1000 genomes]
rs28793641	0.82[EUR][1000 genomes]
rs34229852	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41466245	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4326376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs952271	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv831313	chr8:52458835-52638968	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52559600-52565600	Weak transcription	Aorta	Aorta
2	chr8:52559600-52565600	Weak transcription	Psoas Muscle	Psoas
3	chr8:52559600-52570400	Weak transcription	Left Ventricle	heart
4	chr8:52560400-52567800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:52562800-52568600	Enhancers	Fetal Heart	heart
6	chr8:52563400-52573400	Weak transcription	Right Atrium	heart
7	chr8:52564000-52567600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:52564200-52565400	Enhancers	Fetal Lung	lung
9	chr8:52564800-52565800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:52564800-52567000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:52565200-52565600	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr8:52565200-52567800	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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