Variant report

Variant	rs1564179
Chromosome Location	chr8:4469330-4469331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12334700	0.91[CHB][hapmap];0.82[CHD][hapmap]
rs12335285	0.83[ASN][1000 genomes]
rs1382250	0.86[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap]
rs1382251	0.86[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap]
rs2061750	0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[JPT][hapmap]
rs2466731	0.90[JPT][hapmap]
rs2616969	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2616972	0.81[CHB][hapmap]
rs2616973	0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs2616975	0.81[JPT][hapmap]
rs2616976	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs2616978	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2616979	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs2617104	0.84[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap]
rs2617105	0.92[ASN][1000 genomes]
rs2725039	0.90[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs2725041	0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2725043	0.81[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap]
rs2725044	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs2725046	0.85[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530531	chr8:3942575-4605088	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv889939	chr8:4033186-4718648	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv889960	chr8:4395685-4489552	Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv465384	chr8:4413282-4512135	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv609857	chr8:4413282-4512135	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv428513	chr8:4435878-4613986	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1844135	chr8:4442963-4602387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv889962	chr8:4453036-4480667	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv2422279	chr8:4458646-4641684	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv470173	chr8:4464167-4477529	Enhancers	n/a	n/a	inside rSNPs	diseases
11	nsv609860	chr8:4466042-4477529	Enhancers	n/a	n/a	inside rSNPs	diseases
12	nsv465386	chr8:4467334-4676661	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv609861	chr8:4467334-4676661	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv470174	chr8:4468173-4477529	Enhancers	n/a	n/a	inside rSNPs	diseases
15	nsv609862	chr8:4468173-4477529	Enhancers	n/a	n/a	inside rSNPs	diseases
16	nsv609863	chr8:4468173-4480689	Enhancers Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1564179	SGK223	cis	cerebellum	SCAN
rs1564179	CSMD1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4468200-4471000	Enhancers	Fetal Heart	heart
2	chr8:4469200-4469800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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