Variant report

Variant	rs60219606
Chromosome Location	chr1:45567676-45567677
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs55737255	1.00[AMR][1000 genomes]
rs55871654	1.00[AMR][1000 genomes]
rs55996831	1.00[AMR][1000 genomes]
rs56139314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56229368	1.00[AMR][1000 genomes]
rs56858212	1.00[AMR][1000 genomes]
rs57849329	1.00[AMR][1000 genomes]
rs58030745	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58301056	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59888189	1.00[AMR][1000 genomes]
rs61564383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070839	0.82[AFR][1000 genomes]
rs74070844	1.00[AMR][1000 genomes]
rs74070852	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070854	1.00[AMR][1000 genomes]
rs74070855	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070867	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070875	1.00[AMR][1000 genomes]
rs74070878	1.00[AMR][1000 genomes]
rs74070879	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070880	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070881	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070883	0.88[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	1.00[AMR][1000 genomes]
rs74072213	1.00[AMR][1000 genomes]
rs74072217	1.00[AMR][1000 genomes]
rs74072218	1.00[AMR][1000 genomes]
rs74072221	1.00[AMR][1000 genomes]
rs74072224	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	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	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
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:45563000-45569400	Weak transcription	Brain Germinal Matrix	brain
2	chr1:45564200-45568000	Weak transcription	HepG2	liver
3	chr1:45567400-45568000	Enhancers	Sigmoid Colon	Sigmoid Colon

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