Variant report

Variant	rs960385
Chromosome Location	chr6:146371074-146371075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10223507	0.84[JPT][hapmap]
rs1062068	0.85[JPT][hapmap]
rs1884364	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2224120	0.85[JPT][hapmap]
rs2247666	0.85[JPT][hapmap]
rs2249386	0.85[JPT][hapmap]
rs2253654	0.84[JPT][hapmap]
rs2253757	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs2485631	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs2777485	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2814874	0.84[JPT][hapmap]
rs2814875	0.85[JPT][hapmap]
rs2814877	0.85[JPT][hapmap]
rs34541797	0.82[ASN][1000 genomes]
rs3924499	0.84[JPT][hapmap]
rs3924502	0.85[JPT][hapmap]
rs4075694	0.85[JPT][hapmap]
rs4280983	0.85[JPT][hapmap]
rs6570732	0.86[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6912351	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6922507	0.85[JPT][hapmap]
rs6923545	0.85[JPT][hapmap]
rs7746618	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7753092	0.85[JPT][hapmap]
rs7753696	0.85[JPT][hapmap]
rs863820	0.85[JPT][hapmap]
rs9285508	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs9376970	0.85[JPT][hapmap]
rs9390365	0.85[JPT][hapmap]
rs9390374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390378	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9403756	0.85[JPT][hapmap]
rs9497426	0.90[CHD][hapmap];0.88[JPT][hapmap]
rs9497431	0.85[JPT][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	nsv604839	chr6:146305810-146828922	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1029440	chr6:146349442-146407453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs960385	SHPRH	cis	cerebellum	SCAN
rs960385	EPM2A	cis	parietal	SCAN
rs960385	ULBP3	cis	parietal	SCAN
rs960385	SHPRH	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146370200-146377600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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