Variant report

Variant	rs4667666
Chromosome Location	chr2:171753524-171753525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10210883	0.82[JPT][hapmap]
rs1045327	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs10460312	0.86[EUR][1000 genomes]
rs10515934	0.87[CHD][hapmap]
rs10930446	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896607	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12467996	0.95[EUR][1000 genomes]
rs12997252	0.87[CHD][hapmap]
rs13002517	1.00[JPT][hapmap]
rs13003218	1.00[JPT][hapmap]
rs13004273	0.87[CHD][hapmap]
rs13016705	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs1529378	0.87[CHD][hapmap]
rs1541781	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991370	0.87[CHD][hapmap]
rs2033160	0.87[CHD][hapmap]
rs2195116	0.87[CHD][hapmap]
rs2356238	0.93[EUR][1000 genomes]
rs2557794	0.87[CHD][hapmap]
rs2676131	0.87[CHD][hapmap]
rs2676151	0.87[CHD][hapmap]
rs34532258	0.81[ASN][1000 genomes]
rs35230775	0.81[ASN][1000 genomes]
rs3755125	0.87[CHD][hapmap]
rs3770442	0.87[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4233833	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233835	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4668368	0.87[CHD][hapmap]
rs6433276	0.87[CHD][hapmap]
rs6714164	0.87[CHD][hapmap]
rs6729098	0.95[EUR][1000 genomes]
rs6758331	1.00[JPT][hapmap]
rs6761642	0.87[CHD][hapmap]
rs6761759	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs6761889	1.00[JPT][hapmap]
rs67796509	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs731692	1.00[JPT][hapmap]
rs7558586	0.86[EUR][1000 genomes]
rs919190	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4667666	NOSTRIN	cis	parietal	SCAN
rs4667666	SP5	cis	cerebellum	SCAN
rs4667666	TLK1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171750600-171753600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:171751000-171761800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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