Variant report

Variant	rs3130267
Chromosome Location	chr6:33306794-33306795
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1014779	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1061783	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1800838	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2013891	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071888	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2071889	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2395379	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2894334	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3106190	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3106195	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130014	0.83[ASN][1000 genomes]
rs3130016	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3130018	0.87[EUR][1000 genomes]
rs3130099	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3130100	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3130101	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130102	0.87[EUR][1000 genomes]
rs3130262	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3130263	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130264	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3130265	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3130266	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130269	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3130270	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3130271	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3135405	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3135407	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3135408	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3135409	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs446735	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs456261	0.84[EUR][1000 genomes]
rs463260	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs464865	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs469064	0.81[EUR][1000 genomes]
rs9277968	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][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	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	nsv969386	chr6:33297665-33325116	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3130267	TAPBP	cis	multi-tissue	Pritchard
rs3130267	HSS00085774	cis	multi-tissue	Pritchard
rs3130267	ANKS1A	cis	cerebellum	SCAN
rs3130267	ZBTB9	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33291800-33317400	Weak transcription	Right Atrium	heart
2	chr6:33300400-33309800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:33303000-33308800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:33304400-33308200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:33304400-33308400	Weak transcription	Primary B cells from cord blood	blood
6	chr6:33304400-33311200	Weak transcription	GM12878-XiMat	blood

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