Variant report

Variant	rs524048
Chromosome Location	chr11:104892997-104892998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 0)

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	1.00[ASN][1000 genomes]
rs12417470	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	1.00[ASN][1000 genomes]
rs12796365	1.00[ASN][1000 genomes]
rs12797290	1.00[ASN][1000 genomes]
rs12797298	1.00[ASN][1000 genomes]
rs12798696	1.00[ASN][1000 genomes]
rs12800151	1.00[ASN][1000 genomes]
rs12801987	1.00[ASN][1000 genomes]
rs12806837	1.00[ASN][1000 genomes]
rs1354322	1.00[ASN][1000 genomes]
rs1503386	1.00[ASN][1000 genomes]
rs1503391	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503395	1.00[ASN][1000 genomes]
rs1699089	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699090	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103597	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103670	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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792774	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1847301	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	1.00[ASN][1000 genomes]
rs34146979	1.00[ASN][1000 genomes]
rs34255114	1.00[ASN][1000 genomes]
rs34819285	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	1.00[ASN][1000 genomes]
rs473394	1.00[ASN][1000 genomes]
rs473549	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475266	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	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481736	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481926	1.00[ASN][1000 genomes]
rs483345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484626	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs486123	1.00[ASN][1000 genomes]
rs486537	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486576	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs486641	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487128	1.00[ASN][1000 genomes]
rs488992	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs489715	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs490565	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492366	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492519	1.00[ASN][1000 genomes]
rs492859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492981	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs493426	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493814	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs496875	0.96[EUR][1000 genomes]
rs497638	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs498892	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500577	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501192	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501394	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501626	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs503153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504054	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505901	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507509	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508149	1.00[ASN][1000 genomes]
rs516255	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517736	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518878	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518993	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519047	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520001	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs526167	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs528076	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529649	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs530009	1.00[ASN][1000 genomes]
rs531542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531604	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs533050	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533436	1.00[ASN][1000 genomes]
rs534338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534811	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535566	1.00[ASN][1000 genomes]
rs536909	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537014	1.00[ASN][1000 genomes]
rs538943	1.00[ASN][1000 genomes]
rs538984	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539595	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542226	1.00[ASN][1000 genomes]
rs542571	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542774	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545911	1.00[ASN][1000 genomes]
rs546210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546449	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548785	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552134	1.00[ASN][1000 genomes]
rs554344	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555301	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs556205	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs557905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558315	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560880	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567303	1.00[ASN][1000 genomes]
rs568910	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571593	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs572031	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572980	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573440	1.00[ASN][1000 genomes]
rs580253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67513506	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67835723	1.00[ASN][1000 genomes]
rs692897	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692914	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117758	1.00[ASN][1000 genomes]
rs71484389	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	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv898355	chr11:104730322-104897843	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv468863	chr11:104875261-104918517	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv556219	chr11:104875261-104918517	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104885200-104893000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:104887600-104896800	Weak transcription	Placenta	Placenta
3	chr11:104891800-104893600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:104892600-104896400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:104892800-104894400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:104892800-104896400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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