Variant report

Variant	rs7118536
Chromosome Location	chr11:57810680-57810681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1013447	0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs10750876	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap]
rs10750878	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750880	0.94[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10750882	0.94[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.90[TSI][hapmap]
rs10750883	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap]
rs10792126	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10792128	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10792129	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10792130	1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs10792131	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792132	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792135	0.94[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs10896690	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896692	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11229221	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11229236	0.91[JPT][hapmap]
rs11229237	0.91[JPT][hapmap]
rs11229247	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs11229250	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1123196	0.90[JPT][hapmap]
rs1123307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11823591	0.83[ASN][1000 genomes]
rs12226617	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12363350	0.94[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.90[TSI][hapmap]
rs1447169	0.94[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.90[TSI][hapmap]
rs1868043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100110	0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2167358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2218598	0.91[JPT][hapmap]
rs2441950	0.82[JPT][hapmap]
rs2441958	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2441972	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2441979	0.98[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs2513726	1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs2513727	1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs2513729	0.86[JPT][hapmap]
rs2513730	0.91[JPT][hapmap]
rs2514181	0.91[JPT][hapmap]
rs2514187	0.98[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap]
rs2514191	0.81[EUR][1000 genomes]
rs2514202	0.91[JPT][hapmap]
rs2839749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2866830	0.83[CEU][hapmap];0.91[JPT][hapmap]
rs3853677	0.80[JPT][hapmap]
rs3974323	0.94[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.90[TSI][hapmap]
rs3974325	0.88[YRI][hapmap]
rs4503567	0.80[AMR][1000 genomes]
rs4939175	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4939182	0.94[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.90[TSI][hapmap]
rs59448383	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59594813	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6591455	0.94[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.90[TSI][hapmap]
rs7109726	0.94[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap]
rs7110748	0.94[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7111942	0.82[EUR][1000 genomes]
rs7113065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7117613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117711	0.94[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.92[LWK][hapmap];0.90[TSI][hapmap];0.93[YRI][hapmap]
rs7126858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7952724	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs896300	0.81[CEU][hapmap]
rs921133	0.94[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs921134	1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs921135	1.00[GIH][hapmap];0.91[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap]
rs976429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs976430	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7118536	MS4A8B	cis	cerebellum	SCAN
rs7118536	OR4C6	cis	parietal	SCAN
rs7118536	MS4A6A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57792000-57811400	Weak transcription	Right Atrium	heart

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