Variant report

Variant	rs11229194
Chromosome Location	chr11:57753790-57753791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1013447	0.84[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs10750876	0.83[CEU][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10750878	0.85[GIH][hapmap]
rs10792119	0.81[AMR][1000 genomes]
rs10792120	0.87[AMR][1000 genomes]
rs10792121	0.87[AMR][1000 genomes]
rs10792122	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10792127	0.85[ASN][1000 genomes]
rs10792130	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs10896663	0.86[AMR][1000 genomes]
rs10896668	0.83[AMR][1000 genomes]
rs10896671	0.87[AMR][1000 genomes]
rs10896672	0.86[AMR][1000 genomes]
rs10896674	0.88[AMR][1000 genomes]
rs10896675	0.88[AMR][1000 genomes]
rs10896689	0.82[ASN][1000 genomes]
rs11229195	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229197	0.84[ASN][1000 genomes]
rs11229236	0.84[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs11229237	0.82[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1123196	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs11512733	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12281690	0.81[AMR][1000 genomes]
rs1510419	0.93[AMR][1000 genomes]
rs1510421	0.86[AMR][1000 genomes]
rs1807961	0.82[ASN][1000 genomes]
rs1848882	0.88[AMR][1000 genomes]
rs1848883	0.88[AMR][1000 genomes]
rs1868043	0.84[GIH][hapmap]
rs2089748	0.90[AMR][1000 genomes]
rs2100110	0.84[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2167357	0.84[CEU][hapmap]
rs2218598	0.84[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2441960	0.85[ASN][1000 genomes]
rs2441961	0.85[ASN][1000 genomes]
rs2441979	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap]
rs2513705	0.86[ASN][1000 genomes]
rs2513713	0.87[ASN][1000 genomes]
rs2513726	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs2513727	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs2513729	0.82[CHB][hapmap]
rs2513730	0.84[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2514181	0.84[CEU][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2514186	0.85[ASN][1000 genomes]
rs2514187	0.84[CEU][hapmap];0.90[CHB][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap];0.84[ASN][1000 genomes]
rs2514202	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs2866830	0.89[CEU][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs34243081	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3851119	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4267090	0.82[ASN][1000 genomes]
rs4272801	0.83[AMR][1000 genomes]
rs4341559	0.82[ASN][1000 genomes]
rs4418827	0.83[ASN][1000 genomes]
rs4423203	0.83[ASN][1000 genomes]
rs4938883	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4939170	0.83[AMR][1000 genomes]
rs4939174	0.82[ASN][1000 genomes]
rs4939176	0.85[GIH][hapmap]
rs6591447	0.81[AMR][1000 genomes]
rs7118536	0.85[GIH][hapmap]
rs7125209	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7924376	0.91[AMR][1000 genomes]
rs7924454	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7926806	0.82[ASN][1000 genomes]
rs7941993	0.82[ASN][1000 genomes]
rs896300	0.80[CEU][hapmap]
rs921132	0.87[ASN][1000 genomes]
rs921133	0.84[GIH][hapmap]
rs921134	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.87[ASN][1000 genomes]
rs921135	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs938012	0.93[AMR][1000 genomes]
rs9795237	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv328	chr11:57744748-57789940	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11229194	MS4A8B	cis	cerebellum	SCAN
rs11229194	YPEL4	cis	multi-tissue	Pritchard
rs11229194	OR4C6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57749800-57758800	Weak transcription	HepG2	liver

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