Variant report

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

rs_ID	r²[population]
rs10512891	0.89[CEU][hapmap]
rs10512896	0.89[CEU][hapmap]
rs1197316	0.89[CEU][hapmap]
rs12488775	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12490128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13072106	1.00[ASW][hapmap];0.89[CEU][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs13085858	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13087916	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13097026	0.89[CEU][hapmap]
rs16840161	0.89[CEU][hapmap];0.83[CHD][hapmap]
rs1708373	0.89[CEU][hapmap]
rs1920021	0.89[CEU][hapmap]
rs34413700	0.83[EUR][1000 genomes]
rs34707548	0.83[EUR][1000 genomes]
rs35971054	0.83[EUR][1000 genomes]
rs4130892	0.83[EUR][1000 genomes]
rs4544614	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66572811	0.83[EUR][1000 genomes]
rs67625558	0.83[EUR][1000 genomes]
rs7612595	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs7625110	0.89[CEU][hapmap]
rs7650741	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000962	chr3:132115062-132919907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1868601	KCNA6	trans	cerebellum	SCAN
rs1868601	TOPBP1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132909800-132913600	Weak transcription	Fetal Brain Female	brain
2	chr3:132911600-132917400	Weak transcription	Spleen	Spleen
3	chr3:132911800-132919000	Weak transcription	HSMMtube	muscle
4	chr3:132912000-132919000	Weak transcription	Fetal Lung	lung
5	chr3:132912000-132919200	Weak transcription	Fetal Brain Male	brain

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