Variant report

Variant	rs74072221
Chromosome Location	chr1:45720200-45720201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45696772..45699429-chr1:45718922..45721450,2	K562	blood:
2	chr1:45716599..45723837-chr1:45726714..45733883,8	K562	blood:

Variant related genes	Relation type
ENSG00000221707	Chromatin interaction

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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55871654	1.00[AMR][1000 genomes]
rs55996831	1.00[AMR][1000 genomes]
rs56139314	1.00[AMR][1000 genomes]
rs56229368	1.00[AMR][1000 genomes]
rs56858212	1.00[AMR][1000 genomes]
rs57849329	1.00[AMR][1000 genomes]
rs58030745	1.00[AMR][1000 genomes]
rs58301056	1.00[AMR][1000 genomes]
rs59764137	1.00[AMR][1000 genomes]
rs59888189	1.00[AMR][1000 genomes]
rs60219606	1.00[AMR][1000 genomes]
rs61564383	1.00[AMR][1000 genomes]
rs61788427	0.84[AFR][1000 genomes]
rs74070844	1.00[AMR][1000 genomes]
rs74070852	1.00[AMR][1000 genomes]
rs74070854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070855	1.00[AMR][1000 genomes]
rs74070867	1.00[AMR][1000 genomes]
rs74070875	1.00[AMR][1000 genomes]
rs74070878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070879	1.00[AMR][1000 genomes]
rs74070880	1.00[AMR][1000 genomes]
rs74070881	1.00[AMR][1000 genomes]
rs74070883	1.00[AMR][1000 genomes]
rs74070891	1.00[AFR][1000 genomes];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]
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	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45713000-45720200	Weak transcription	HepG2	liver
2	chr1:45713600-45723800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:45719800-45720400	Enhancers	Liver	Liver
4	chr1:45719800-45721000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:45720200-45721000	Enhancers	HepG2	liver

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