Variant report

Variant	rs9930129
Chromosome Location	chr16:80176656-80176657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16952519	0.90[AMR][1000 genomes]
rs16952527	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28645719	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28689188	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28806170	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571919	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73571920	0.90[AMR][1000 genomes]
rs9923633	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9939206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941188	0.87[AFR][1000 genomes];0.90[AMR][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	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80176200-80177000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr16:80176200-80177200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:80176200-80178800	Enhancers	HepG2	liver
4	chr16:80176600-80177200	Bivalent Enhancer	NHDF-Ad	bronchial

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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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