Variant report

Variant	rs7930612
Chromosome Location	chr11:47699398-47699399
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10742824	1.00[YRI][hapmap]
rs10769299	1.00[YRI][hapmap]
rs10769300	1.00[YRI][hapmap]
rs10838758	0.87[YRI][hapmap]
rs10838759	0.88[YRI][hapmap]
rs10838760	0.88[YRI][hapmap]
rs10838773	1.00[YRI][hapmap]
rs10838774	1.00[YRI][hapmap]
rs10838777	1.00[YRI][hapmap]
rs11039322	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11039373	0.88[YRI][hapmap]
rs11039377	0.88[YRI][hapmap]
rs11039402	1.00[YRI][hapmap]
rs11039419	1.00[YRI][hapmap]
rs12226431	0.88[YRI][hapmap]
rs12285933	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12785949	1.00[YRI][hapmap]
rs1563821	1.00[YRI][hapmap]
rs17726787	0.84[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17727140	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2170815	0.82[LWK][hapmap]
rs3816605	1.00[YRI][hapmap]
rs3886262	1.00[YRI][hapmap]
rs56096002	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60137857	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60793725	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6485773	1.00[YRI][hapmap]
rs6485786	1.00[YRI][hapmap]
rs7108479	0.88[YRI][hapmap]
rs7110300	1.00[YRI][hapmap]
rs7114813	0.88[YRI][hapmap]
rs7129948	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs754434	1.00[YRI][hapmap]
rs7929014	0.88[YRI][hapmap]
rs7931221	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932703	1.00[YRI][hapmap]
rs7950674	1.00[YRI][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	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7930612	MTCH2	cis	cerebellum	SCAN
rs7930612	MADD	cis	parietal	SCAN
rs7930612	PSMC3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47676800-47703400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:47689400-47711200	Weak transcription	Liver	Liver

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