Variant report

Variant	rs9469473
Chromosome Location	chr6:33502887-33502888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10214667	1.00[EUR][1000 genomes]
rs11961893	1.00[AMR][1000 genomes]
rs11964724	1.00[AMR][1000 genomes]
rs11967163	1.00[EUR][1000 genomes]
rs11970477	1.00[EUR][1000 genomes]
rs12111285	1.00[AMR][1000 genomes]
rs28488940	1.00[EUR][1000 genomes]
rs28589816	1.00[EUR][1000 genomes]
rs28868935	1.00[EUR][1000 genomes]
rs41271255	1.00[EUR][1000 genomes]
rs557559	1.00[CEU][hapmap]
rs55897728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56085633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56122765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124649	1.00[EUR][1000 genomes]
rs56148814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56226140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56250036	1.00[EUR][1000 genomes]
rs56875788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56906858	0.96[AFR][1000 genomes]
rs57104544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57290518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57877240	1.00[EUR][1000 genomes]
rs58043092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58058146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58312523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58566767	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59401679	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60289279	1.00[EUR][1000 genomes]
rs60854312	1.00[EUR][1000 genomes]
rs60880341	1.00[EUR][1000 genomes]
rs61138871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61163286	1.00[EUR][1000 genomes]
rs61348385	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61589902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61733862	1.00[AMR][1000 genomes]
rs61734735	1.00[AMR][1000 genomes]
rs73402380	1.00[EUR][1000 genomes]
rs73402381	1.00[EUR][1000 genomes]
rs73402386	1.00[EUR][1000 genomes]
rs73412035	1.00[EUR][1000 genomes]
rs73412040	1.00[EUR][1000 genomes]
rs73741826	1.00[EUR][1000 genomes]
rs73741830	1.00[EUR][1000 genomes]
rs73741832	1.00[EUR][1000 genomes]
rs73741833	1.00[EUR][1000 genomes]
rs73741836	1.00[EUR][1000 genomes]
rs73741932	1.00[EUR][1000 genomes]
rs73743206	1.00[EUR][1000 genomes]
rs73743207	1.00[EUR][1000 genomes]
rs7742848	1.00[EUR][1000 genomes]
rs9461859	1.00[EUR][1000 genomes]
rs9461861	1.00[EUR][1000 genomes]
rs9461865	1.00[EUR][1000 genomes]
rs9461866	1.00[EUR][1000 genomes]
rs9461871	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9461872	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9469408	1.00[EUR][1000 genomes]
rs9469409	1.00[EUR][1000 genomes]
rs9469410	1.00[EUR][1000 genomes]
rs9469415	1.00[EUR][1000 genomes]
rs9469416	1.00[EUR][1000 genomes]
rs9469419	1.00[EUR][1000 genomes]
rs9469421	1.00[EUR][1000 genomes]
rs9469433	1.00[EUR][1000 genomes]
rs9469437	1.00[EUR][1000 genomes]
rs9469441	1.00[EUR][1000 genomes]
rs9469442	1.00[EUR][1000 genomes]
rs9469444	1.00[EUR][1000 genomes]
rs9469445	1.00[EUR][1000 genomes]
rs9469446	1.00[EUR][1000 genomes]
rs9469465	1.00[CEU][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap]
rs9469468	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9469474	1.00[EUR][1000 genomes]
rs9469476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9469477	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9469478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9469479	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9969005	1.00[AMR][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	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv524010	chr6:33468151-33505981	Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv2763548	chr6:33496201-33524779	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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
rs9469473	RING1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33501600-33512800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:33502000-33503200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:33502200-33503200	Enhancers	HepG2	liver
4	chr6:33502800-33503000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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