Variant report

Variant	rs4652173
Chromosome Location	chr1:176411573-176411574
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	chr1:176403551..176406184-chr1:176410216..176412303,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12117920	0.82[EUR][1000 genomes]
rs12137300	0.81[EUR][1000 genomes]
rs1354286	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1503116	0.92[EUR][1000 genomes]
rs1503124	0.94[ASN][1000 genomes]
rs184764	0.86[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs2221333	0.97[ASN][1000 genomes]
rs2455724	0.97[ASN][1000 genomes]
rs2455725	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2455726	0.84[EUR][1000 genomes]
rs2455727	0.81[ASN][1000 genomes]
rs2455729	0.81[ASN][1000 genomes]
rs2455731	0.81[ASN][1000 genomes]
rs2455748	0.97[ASN][1000 genomes]
rs2455751	0.83[EUR][1000 genomes]
rs2455756	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2504472	0.83[EUR][1000 genomes]
rs2504473	0.91[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap]
rs2504479	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504480	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504492	0.97[ASN][1000 genomes]
rs2504493	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs2504494	0.97[ASN][1000 genomes]
rs2504499	0.97[ASN][1000 genomes]
rs2504502	0.81[ASN][1000 genomes]
rs2504503	0.81[ASN][1000 genomes]
rs2504512	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2861675	0.81[EUR][1000 genomes]
rs3123622	0.95[ASN][1000 genomes]
rs352311	0.83[EUR][1000 genomes]
rs352314	0.82[EUR][1000 genomes]
rs352330	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap]
rs352334	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs4130088	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233166	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642850	0.91[ASN][1000 genomes]
rs4650941	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650943	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4652175	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831970	chr1:176386162-176569207	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4652173	VAMP4	cis	parietal	SCAN
rs4652173	FMO2	cis	parietal	SCAN
rs4652173	DARS2	cis	parietal	SCAN
rs4652173	PIGC	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176406200-176415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:176410000-176415000	Weak transcription	Placenta	Placenta

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