Variant report

Variant	rs16894536
Chromosome Location	chr8:122030029-122030030
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16894513	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16894587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688078	1.00[AMR][1000 genomes]
rs4545106	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61273259	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315256	0.82[AFR][1000 genomes]
rs73315259	0.82[AFR][1000 genomes]
rs73315275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317192	1.00[AMR][1000 genomes]
rs73318909	1.00[AMR][1000 genomes]
rs73318914	1.00[AMR][1000 genomes]
rs73318917	1.00[AMR][1000 genomes]
rs73333003	1.00[AMR][1000 genomes]
rs73333015	0.89[AFR][1000 genomes]
rs73333023	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333065	0.82[AFR][1000 genomes]
rs7818684	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122028800-122030600	Enhancers	HSMM	muscle
2	chr8:122029000-122030200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:122029000-122030400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:122029000-122031600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:122029200-122030600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:122030000-122031600	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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