Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs169564	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2468312	0.83[EUR][1000 genomes]
rs2599254	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2608717	0.82[GIH][hapmap];0.82[EUR][1000 genomes]
rs2730812	0.87[GIH][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2730831	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2730832	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs285551	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs285552	0.82[EUR][1000 genomes]
rs285553	0.82[EUR][1000 genomes]
rs285554	0.83[EUR][1000 genomes]
rs285558	0.82[EUR][1000 genomes]
rs285559	0.87[GIH][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs285570	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs285571	0.87[GIH][hapmap];0.83[EUR][1000 genomes]
rs285572	0.83[EUR][1000 genomes]
rs285573	0.83[EUR][1000 genomes]
rs285584	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs285588	0.94[GIH][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs285589	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs285594	0.90[AMR][1000 genomes]
rs285596	0.87[GIH][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs285597	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs287087	0.87[GIH][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs392217	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs285591	PDZRN4	cis	parietal	SCAN
rs285591	KIF21A	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41925600-41949800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:41925800-41944800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:41942800-41956800	Weak transcription	Colon Smooth Muscle	Colon

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