Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10081470	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10088756	0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10096508	1.00[JPT][hapmap]
rs11994050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12335072	1.00[JPT][hapmap]
rs16914913	1.00[JPT][hapmap]
rs2062039	1.00[JPT][hapmap]
rs57575663	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60139884	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60604540	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983633	0.95[ASN][1000 genomes]
rs7008861	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73585148	1.00[ASN][1000 genomes]
rs7815338	1.00[JPT][hapmap]
rs7815358	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7830079	1.00[ASN][1000 genomes]
rs7831010	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7832503	1.00[JPT][hapmap]
rs7837566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7843301	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs9987212	1.00[JPT][hapmap]
rs9987391	0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948436	chr8:51115028-51917504	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv831312	chr8:51239772-51422844	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv916262	chr8:51322341-51437077	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv429914	chr8:51371447-51617647	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv531502	chr8:51390997-51703556	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11995090	TPM2	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51403000-51404200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51403200-51404200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr8:51403600-51404200	ZNF genes & repeats	Fetal Brain Female	brain
4	chr8:51404000-51404200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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