Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10495209	0.80[EUR][1000 genomes]
rs10907384	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12046541	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063062	0.83[ASN][1000 genomes]
rs3922892	0.91[ASN][1000 genomes]
rs3935462	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4295879	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4456085	0.91[ASN][1000 genomes]
rs4559495	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4603130	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4623692	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4636450	0.80[EUR][1000 genomes]
rs4661271	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4661278	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61823509	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823516	0.91[ASN][1000 genomes]
rs6671885	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6682926	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685694	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690293	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7527013	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7527020	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7540409	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7554045	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1013538	chr1:223626487-223670776	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4661273	SUSD4	cis	cerebellum	SCAN
rs4661273	BPNT1	cis	parietal	SCAN
rs4661273	WDR26	cis	parietal	SCAN
rs4661273	HHIPL2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223661400-223671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:223661400-223674000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:223662000-223665600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:223664400-223666000	Enhancers	Placenta	Placenta
5	chr1:223664800-223666600	Enhancers	HMEC	breast
6	chr1:223665200-223666000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:223665400-223665600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:223665400-223665800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:223665400-223665800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:223665400-223665800	Enhancers	Esophagus	oesophagus
11	chr1:223665400-223665800	Enhancers	NHEK	skin
12	chr1:223665400-223666000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:223665400-223666000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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