Variant report

Variant	rs552134
Chromosome Location	chr11:104936160-104936161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs10502046	1.00[ASN][1000 genomes]
rs12281540	1.00[ASN][1000 genomes]
rs12416756	1.00[ASN][1000 genomes]
rs12417050	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417470	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419220	1.00[ASN][1000 genomes]
rs12420524	1.00[ASN][1000 genomes]
rs12420557	1.00[ASN][1000 genomes]
rs12420601	1.00[ASN][1000 genomes]
rs12787184	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796365	1.00[ASN][1000 genomes]
rs12797290	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797298	1.00[ASN][1000 genomes]
rs12798696	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800151	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801987	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806837	1.00[ASN][1000 genomes]
rs1354322	1.00[ASN][1000 genomes]
rs1503386	1.00[ASN][1000 genomes]
rs1503391	1.00[ASN][1000 genomes]
rs1503395	1.00[ASN][1000 genomes]
rs1699089	1.00[ASN][1000 genomes]
rs1699090	1.00[ASN][1000 genomes]
rs17103597	1.00[ASN][1000 genomes]
rs17103670	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103773	1.00[ASN][1000 genomes]
rs17103781	1.00[ASN][1000 genomes]
rs17103836	1.00[ASN][1000 genomes]
rs17103858	1.00[ASN][1000 genomes]
rs17103866	1.00[ASN][1000 genomes]
rs17103873	1.00[ASN][1000 genomes]
rs17376738	1.00[ASN][1000 genomes]
rs17377910	1.00[ASN][1000 genomes]
rs17378343	1.00[ASN][1000 genomes]
rs1792749	1.00[ASN][1000 genomes]
rs1792774	1.00[ASN][1000 genomes]
rs1847301	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047840	1.00[ASN][1000 genomes]
rs2047841	1.00[ASN][1000 genomes]
rs2062807	1.00[ASN][1000 genomes]
rs2062808	1.00[ASN][1000 genomes]
rs2155817	1.00[ASN][1000 genomes]
rs34105770	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34146979	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34255114	1.00[ASN][1000 genomes]
rs34806541	0.85[EUR][1000 genomes]
rs34819285	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120805	1.00[ASN][1000 genomes]
rs35394521	1.00[ASN][1000 genomes]
rs35560124	1.00[ASN][1000 genomes]
rs35565964	1.00[ASN][1000 genomes]
rs35743576	1.00[ASN][1000 genomes]
rs35995863	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473394	1.00[ASN][1000 genomes]
rs473549	1.00[ASN][1000 genomes]
rs475266	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754122	1.00[ASN][1000 genomes]
rs4754123	1.00[ASN][1000 genomes]
rs4754124	1.00[ASN][1000 genomes]
rs4754125	1.00[ASN][1000 genomes]
rs4755076	1.00[ASN][1000 genomes]
rs4755077	1.00[ASN][1000 genomes]
rs4755078	1.00[ASN][1000 genomes]
rs4755079	1.00[ASN][1000 genomes]
rs4755080	1.00[ASN][1000 genomes]
rs4755081	1.00[ASN][1000 genomes]
rs476889	1.00[ASN][1000 genomes]
rs481736	1.00[ASN][1000 genomes]
rs481926	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483345	1.00[ASN][1000 genomes]
rs484626	1.00[ASN][1000 genomes]
rs486123	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486537	1.00[ASN][1000 genomes]
rs486641	1.00[ASN][1000 genomes]
rs487128	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488992	1.00[ASN][1000 genomes]
rs489715	1.00[ASN][1000 genomes]
rs490565	1.00[ASN][1000 genomes]
rs492366	1.00[ASN][1000 genomes]
rs492519	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492859	1.00[ASN][1000 genomes]
rs492981	1.00[ASN][1000 genomes]
rs493426	1.00[ASN][1000 genomes]
rs493814	1.00[ASN][1000 genomes]
rs498892	1.00[ASN][1000 genomes]
rs500577	1.00[ASN][1000 genomes]
rs501192	1.00[ASN][1000 genomes]
rs501394	1.00[ASN][1000 genomes]
rs501429	1.00[ASN][1000 genomes]
rs501626	1.00[ASN][1000 genomes]
rs503153	1.00[ASN][1000 genomes]
rs504054	1.00[ASN][1000 genomes]
rs505901	1.00[ASN][1000 genomes]
rs507438	1.00[ASN][1000 genomes]
rs507509	1.00[ASN][1000 genomes]
rs508149	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516255	1.00[ASN][1000 genomes]
rs516286	1.00[ASN][1000 genomes]
rs517736	1.00[ASN][1000 genomes]
rs518878	1.00[ASN][1000 genomes]
rs518993	1.00[ASN][1000 genomes]
rs519047	1.00[ASN][1000 genomes]
rs520001	1.00[ASN][1000 genomes]
rs524048	1.00[ASN][1000 genomes]
rs526167	1.00[ASN][1000 genomes]
rs528076	1.00[ASN][1000 genomes]
rs529649	1.00[ASN][1000 genomes]
rs530009	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531542	1.00[ASN][1000 genomes]
rs531604	1.00[ASN][1000 genomes]
rs533050	1.00[ASN][1000 genomes]
rs533436	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534338	1.00[ASN][1000 genomes]
rs534811	1.00[ASN][1000 genomes]
rs535566	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536909	1.00[ASN][1000 genomes]
rs537014	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538984	1.00[ASN][1000 genomes]
rs539595	1.00[ASN][1000 genomes]
rs542226	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542571	1.00[ASN][1000 genomes]
rs542774	1.00[ASN][1000 genomes]
rs543112	0.81[AMR][1000 genomes]
rs545911	1.00[ASN][1000 genomes]
rs546210	1.00[ASN][1000 genomes]
rs546449	1.00[ASN][1000 genomes]
rs548785	1.00[ASN][1000 genomes]
rs554344	1.00[ASN][1000 genomes]
rs555301	1.00[ASN][1000 genomes]
rs556205	1.00[ASN][1000 genomes]
rs557905	1.00[ASN][1000 genomes]
rs558315	1.00[ASN][1000 genomes]
rs560880	1.00[ASN][1000 genomes]
rs567303	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568910	1.00[ASN][1000 genomes]
rs571593	1.00[ASN][1000 genomes]
rs571801	0.81[EUR][1000 genomes]
rs572031	1.00[ASN][1000 genomes]
rs572687	1.00[ASN][1000 genomes]
rs572980	1.00[ASN][1000 genomes]
rs573440	1.00[ASN][1000 genomes]
rs580253	1.00[ASN][1000 genomes]
rs67513506	1.00[ASN][1000 genomes]
rs67835723	1.00[ASN][1000 genomes]
rs692897	1.00[ASN][1000 genomes]
rs692914	1.00[ASN][1000 genomes]
rs7117758	1.00[ASN][1000 genomes]
rs71484389	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484390	1.00[ASN][1000 genomes]
rs71484391	1.00[ASN][1000 genomes]
rs71484394	1.00[ASN][1000 genomes]
rs71484399	1.00[ASN][1000 genomes]
rs71484400	1.00[ASN][1000 genomes]
rs71484401	1.00[ASN][1000 genomes]
rs71484402	1.00[ASN][1000 genomes]
rs7928549	1.00[ASN][1000 genomes]
rs7929852	1.00[ASN][1000 genomes]
rs7930712	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv470	chr11:104916361-104961230	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a
11	nsv1042388	chr11:104934347-104988325	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs552134	CARD17	cis	Whole Blood	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104927000-104936200	Weak transcription	Small Intestine	intestine
2	chr11:104931000-104936800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:104931600-104936200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr11:104932200-104936800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:104933600-104936400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:104935200-104936400	Weak transcription	NHEK	skin
7	chr11:104935200-104938200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:104935200-104941200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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