Variant report

Variant	rs9888266
Chromosome Location	chr11:93651355-93651356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12785450	0.83[ASN][1000 genomes]
rs12806242	0.83[ASN][1000 genomes]
rs1573567	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16919533	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16919815	1.00[CHB][hapmap];0.92[GIH][hapmap]
rs55659547	0.83[ASN][1000 genomes]
rs56359140	0.83[ASN][1000 genomes]
rs57856352	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60351354	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60546087	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60550219	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67167563	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67232024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67549397	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67812366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67915626	0.83[ASN][1000 genomes]
rs7102422	0.83[ASN][1000 genomes]
rs7105405	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7109132	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109819	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71480693	0.83[ASN][1000 genomes]
rs72962860	0.83[ASN][1000 genomes]
rs72962872	0.83[ASN][1000 genomes]
rs72962880	0.83[ASN][1000 genomes]
rs72962891	0.83[ASN][1000 genomes]
rs7927828	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932290	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934467	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941015	0.83[ASN][1000 genomes]
rs7950356	0.83[ASN][1000 genomes]
rs950878	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9888143	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9888156	1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv1796911	chr11:93642877-93688134	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9888266	FAM76B	cis	cerebellum	SCAN
rs9888266	HEPHL1	cis	Artery Tibial	GTEx
rs9888266	GPR83	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93641600-93652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:93642000-93655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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