Variant report

Variant	rs74072217
Chromosome Location	chr1:45711648-45711649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45705359..45708698-chr1:45708839..45712557,3	K562	blood:

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]
rs74072218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072221	1.00[AMR][1000 genomes]
rs74072224	1.00[AFR][1000 genomes];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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45709400-45711800	Weak transcription	NHDF-Ad	bronchial
2	chr1:45710200-45712000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:45711600-45712200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:45711600-45712400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:45711600-45713000	Enhancers	Osteobl	bone
6	chr1:45711600-45713400	Enhancers	HUVEC	blood vessel
7	chr1:45711600-45713600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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