Variant report

Variant	rs16951938
Chromosome Location	chr16:80021314-80021315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs62042299	0.98[ASN][1000 genomes]
rs62042300	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62042301	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62042302	0.98[ASN][1000 genomes]
rs62042303	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62042304	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7190101	0.94[ASN][1000 genomes]
rs7192124	0.96[ASN][1000 genomes]
rs7195573	0.98[ASN][1000 genomes]
rs9788812	0.98[ASN][1000 genomes]
rs9788879	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9788937	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv573294	chr16:80005642-80131944	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr16:80020000-80021400	Enhancers	Fetal Muscle Leg	muscle
2	chr16:80020600-80022800	Weak transcription	Fetal Lung	lung
3	chr16:80020800-80022000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:80020800-80022000	Weak transcription	HSMMtube	muscle
5	chr16:80020800-80022600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr16:80021200-80023800	Enhancers	K562	blood

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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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