Variant report

Variant	rs72740931
Chromosome Location	chr1:193926204-193926205
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58189587	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61406265	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740932	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740935	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72740936	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740938	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740942	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740943	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72740944	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72743103	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs942098	0.85[AFR][1000 genomes];0.95[EUR][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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872834	chr1:193889533-194482304	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv947144	chr1:193921642-193969239	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193921800-193926800	Weak transcription	Left Ventricle	heart
2	chr1:193925200-193933200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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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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