Variant report

Variant	rs59308022
Chromosome Location	chr7:66307035-66307036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66305123..66307515-chr7:66310267..66312023,2	K562	blood:
2	chr7:66298677..66300616-chr7:66305358..66307359,2	K562	blood:
3	chr7:66302070..66304968-chr7:66306621..66309380,3	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1267817	0.91[AFR][1000 genomes]
rs1267818	0.91[AFR][1000 genomes]
rs12698542	0.91[AFR][1000 genomes]
rs12698551	0.91[ASN][1000 genomes]
rs13228779	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13229468	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13232393	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13233569	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13235282	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236129	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13237544	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13238478	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13238612	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1573944	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1618893	0.91[AFR][1000 genomes]
rs1638731	0.83[AFR][1000 genomes]
rs1638734	0.91[AFR][1000 genomes]
rs1882655	0.91[AFR][1000 genomes]
rs1922723	0.91[AFR][1000 genomes]
rs2141924	0.91[AFR][1000 genomes]
rs2178742	0.91[AFR][1000 genomes]
rs2659903	0.91[AFR][1000 genomes]
rs2659911	0.91[AFR][1000 genomes]
rs2659913	0.91[AFR][1000 genomes]
rs2707823	0.91[AFR][1000 genomes]
rs2707826	0.83[AFR][1000 genomes]
rs2707828	0.82[AFR][1000 genomes]
rs2707830	0.91[AFR][1000 genomes]
rs2707832	0.91[AFR][1000 genomes]
rs2707838	0.91[AFR][1000 genomes]
rs2707840	0.91[AFR][1000 genomes]
rs34162778	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34423980	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs34559676	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34785430	0.82[AFR][1000 genomes]
rs34816289	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35043782	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35111158	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35315599	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35390465	0.89[ASN][1000 genomes]
rs35481333	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35508430	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35624856	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35676956	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35821254	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35851021	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36059333	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3936	0.91[AFR][1000 genomes]
rs4457208	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs55849324	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55889925	0.91[ASN][1000 genomes]
rs56006261	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56235846	0.86[ASN][1000 genomes]
rs56675463	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60201031	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60326618	0.91[AFR][1000 genomes]
rs6460312	0.91[AFR][1000 genomes]
rs66510832	0.84[ASN][1000 genomes]
rs67319329	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs71535634	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71535635	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71563136	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs869249	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs876743	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active 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	18 gene(s)	inside rSNPs	diseases
4	esv3432664	chr7:66291892-66307249	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs59308022	GUSB	cis	Whole Blood	GTEx
rs59308022	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs59308022	VKORC1L1	cis	Whole Blood	GTEx
rs59308022	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs59308022	RP4-756H11.3	cis	lung	GTEx
rs59308022	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs59308022	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66297600-66309000	Weak transcription	Right Atrium	heart
2	chr7:66305600-66307800	Weak transcription	HepG2	liver
3	chr7:66305800-66308600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:66306400-66308600	Weak transcription	Primary T cells fromperipheralblood	blood

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