Variant report

Variant	rs1391354
Chromosome Location	chr3:111137009-111137010
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13316449	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1529058	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1844238	0.88[ASN][1000 genomes]
rs1852804	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1906701	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2201817	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2698373	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2958074	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4145122	0.88[ASN][1000 genomes]
rs4145123	0.88[ASN][1000 genomes]
rs6763699	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6778463	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6785820	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6795186	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7623819	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625425	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629440	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7633973	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7645369	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7648356	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs973208	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9838097	0.94[ASN][1000 genomes]
rs9843462	0.88[ASN][1000 genomes]
rs9868270	0.81[MEX][hapmap]

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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1391354	C3orf52	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111136800-111137600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr3:111136800-111137600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:111137000-111137400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:111137000-111137600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:111137000-111137600	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:111137000-111137800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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