Variant report

Variant	rs74072224
Chromosome Location	chr1:45726662-45726663
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs55737255	1.00[AMR][1000 genomes]
rs55871654	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55996831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56139314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56229368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56858212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57849329	1.00[AMR][1000 genomes]
rs58030745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58301056	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764137	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59888189	1.00[AMR][1000 genomes]
rs60088568	1.00[AFR][1000 genomes]
rs60219606	1.00[AMR][1000 genomes]
rs61564383	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070839	0.81[AFR][1000 genomes]
rs74070844	1.00[AMR][1000 genomes]
rs74070852	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070854	1.00[AMR][1000 genomes]
rs74070855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070867	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070875	1.00[AMR][1000 genomes]
rs74070878	1.00[AMR][1000 genomes]
rs74070879	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070880	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070881	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070883	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070891	1.00[AMR][1000 genomes]
rs74070896	1.00[AMR][1000 genomes]
rs74070899	1.00[AMR][1000 genomes]
rs74070900	1.00[AMR][1000 genomes]
rs74070901	1.00[AMR][1000 genomes]
rs74072212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072213	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072221	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
4	nsv998187	chr1:45677251-45732377	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45724800-45727000	Enhancers	HepG2	liver
2	chr1:45725600-45726800	Enhancers	HUVEC	blood vessel
3	chr1:45726200-45731600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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