Variant report

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

rs_ID	r²[population]
rs10880112	0.83[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs11181110	0.89[EUR][1000 genomes]
rs11181123	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11610493	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12318357	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182293	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2839775	0.88[EUR][1000 genomes]
rs287005	0.93[ASN][1000 genomes]
rs287010	0.84[EUR][1000 genomes]
rs287011	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs287012	0.81[EUR][1000 genomes]
rs287023	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs287024	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs383946	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs395925	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs397496	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs414030	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs438187	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4631944	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971920	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	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
rs2060756	FAF1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42103000-42118800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:42104200-42112600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:42104800-42110000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:42108600-42110200	Weak transcription	Brain Germinal Matrix	brain

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