Variant report

Variant	rs55639530
Chromosome Location	chr5:117559538-117559539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs66883731	1.00[EUR][1000 genomes]
rs72778745	0.92[EUR][1000 genomes]
rs72778746	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72778764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72778765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72778880	0.83[AMR][1000 genomes]
rs72778884	0.83[AMR][1000 genomes]
rs72784848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72784902	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786803	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786804	0.83[AMR][1000 genomes]
rs72786866	0.83[AMR][1000 genomes]
rs72786883	0.83[AMR][1000 genomes]
rs72786887	0.83[AMR][1000 genomes]
rs72788074	0.83[AMR][1000 genomes]
rs72788076	0.83[AMR][1000 genomes]
rs72788078	0.83[AMR][1000 genomes]
rs72788081	0.83[AMR][1000 genomes]
rs72788083	0.83[AMR][1000 genomes]
rs72788088	0.83[AMR][1000 genomes]
rs72788089	0.83[AMR][1000 genomes]
rs72789747	0.83[AMR][1000 genomes]
rs72789749	0.83[AMR][1000 genomes]
rs7708869	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027428	chr5:117072745-118036353	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537877	chr5:117072745-118036353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1067621	chr5:117102544-118036352	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv531292	chr5:117102544-118036352	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1021879	chr5:117386077-117570453	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2422395	chr5:117442806-117887910	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv882762	chr5:117499480-117706786	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117558800-117559800	Weak transcription	Left Ventricle	heart
2	chr5:117559400-117561200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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