Variant report

Variant	rs72778880
Chromosome Location	chr5:117631090-117631091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs3924812	0.90[EUR][1000 genomes]
rs55639530	0.83[AMR][1000 genomes]
rs72778746	0.83[AMR][1000 genomes]
rs72778764	0.83[AMR][1000 genomes]
rs72778765	0.83[AMR][1000 genomes]
rs72778876	0.90[EUR][1000 genomes]
rs72778877	0.90[EUR][1000 genomes]
rs72778879	0.90[EUR][1000 genomes]
rs72778881	0.90[EUR][1000 genomes]
rs72778884	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72778885	0.90[EUR][1000 genomes]
rs72784848	0.83[AMR][1000 genomes]
rs72784849	0.83[AMR][1000 genomes]
rs72784854	0.83[AMR][1000 genomes]
rs72784858	0.83[AMR][1000 genomes]
rs72784886	0.83[AMR][1000 genomes]
rs72784902	1.00[AMR][1000 genomes]
rs72786803	1.00[AMR][1000 genomes]
rs72786804	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72786866	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72786878	0.90[EUR][1000 genomes]
rs72786880	0.90[EUR][1000 genomes]
rs72786882	0.90[EUR][1000 genomes]
rs72786883	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72786885	0.85[EUR][1000 genomes]
rs72786886	0.90[EUR][1000 genomes]
rs72786887	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72786888	0.90[EUR][1000 genomes]
rs72786889	0.90[EUR][1000 genomes]
rs72786890	0.90[EUR][1000 genomes]
rs72788066	0.85[EUR][1000 genomes]
rs72788067	0.85[EUR][1000 genomes]
rs72788069	0.85[EUR][1000 genomes]
rs72788070	0.90[EUR][1000 genomes]
rs72788071	0.90[EUR][1000 genomes]
rs72788074	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72788076	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72788078	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72788081	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72788083	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72788088	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72788089	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72789746	0.85[AMR][1000 genomes]
rs72789747	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72789749	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72789750	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72791667	0.85[AMR][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	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
6	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
7	nsv432802	chr5:117612408-117921244	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr5:117630200-117632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:117630400-117631800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:117630400-117632200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:117630600-117631600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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