Variant report

Variant	rs1947782
Chromosome Location	chr15:39774365-39774366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11070204	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs1158918	0.92[ASN][1000 genomes]
rs11633970	0.83[ASN][1000 genomes]
rs11857561	0.87[ASN][1000 genomes]
rs12438465	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs12593294	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs12899217	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1812583	0.90[ASN][1000 genomes]
rs1993892	0.85[ASN][1000 genomes]
rs1993893	0.89[ASN][1000 genomes]
rs2086166	0.85[ASN][1000 genomes]
rs2127029	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2411293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs34329697	0.83[ASN][1000 genomes]
rs4244571	0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4924361	0.91[ASN][1000 genomes]
rs4924363	0.86[ASN][1000 genomes]
rs59431794	0.83[ASN][1000 genomes]
rs60697424	0.91[ASN][1000 genomes]
rs6492888	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7171244	0.89[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs7178351	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7180041	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7350779	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs74008200	0.85[ASN][1000 genomes]
rs74010438	0.92[ASN][1000 genomes]
rs8030260	0.85[ASN][1000 genomes]
rs8032900	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033214	0.87[ASN][1000 genomes]
rs8042244	0.88[EUR][1000 genomes]
rs875682	0.88[EUR][1000 genomes]
rs936532	0.88[EUR][1000 genomes]
rs9888722	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs9920539	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1947782	RYR3	cis	parietal	SCAN
rs1947782	MEIS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39769400-39775600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr15:39773600-39778200	Weak transcription	Colon Smooth Muscle	Colon

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