Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10505355	1.00[JPT][hapmap]
rs1058913	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs11526	1.00[JPT][hapmap]
rs11775043	1.00[JPT][hapmap]
rs11782222	1.00[JPT][hapmap]
rs11784229	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs11785549	1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs1381333	1.00[JPT][hapmap]
rs1381334	1.00[JPT][hapmap]
rs1381335	1.00[JPT][hapmap]
rs14324	1.00[JPT][hapmap]
rs1461690	1.00[JPT][hapmap]
rs17187482	1.00[JPT][hapmap]
rs17192692	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs17791184	1.00[JPT][hapmap]
rs17791208	1.00[JPT][hapmap]
rs17801314	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs34112166	1.00[JPT][hapmap];0.84[MEX][hapmap]
rs4123837	1.00[JPT][hapmap]
rs7012314	0.83[CHD][hapmap]
rs7816205	1.00[JPT][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap]
rs7816347	1.00[JPT][hapmap]
rs7834596	1.00[JPT][hapmap]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv981977	chr8:120467266-120495356	ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1599473	FAM83A	cis	cerebellum	SCAN
rs1599473	NOV	cis	parietal	SCAN
rs1599473	ENPP2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120475200-120476200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:120475200-120476400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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