Variant report

Variant	rs487128
Chromosome Location	chr11:104947701-104947702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs10502046	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281540	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416756	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417050	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417470	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419220	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420524	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420557	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420601	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12787184	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796365	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797290	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797298	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798696	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800151	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801987	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806837	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354322	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503386	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503391	1.00[ASN][1000 genomes]
rs1503395	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699089	1.00[ASN][1000 genomes]
rs1699090	1.00[ASN][1000 genomes]
rs17103597	1.00[ASN][1000 genomes]
rs17103670	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103773	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103781	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103836	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103858	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103866	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17103873	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376738	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377910	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17378343	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792749	1.00[ASN][1000 genomes]
rs1792774	1.00[ASN][1000 genomes]
rs1847301	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047840	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047841	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062807	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062808	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155817	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34105770	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34146979	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34255114	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34806541	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34819285	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120805	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136587	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35394521	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35560124	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35565964	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35743576	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35995863	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs473394	1.00[ASN][1000 genomes]
rs473549	1.00[ASN][1000 genomes]
rs475266	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754122	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754123	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754124	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754125	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755076	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755077	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755078	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755079	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755080	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755081	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476889	1.00[ASN][1000 genomes]
rs481736	1.00[ASN][1000 genomes]
rs481926	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483345	1.00[ASN][1000 genomes]
rs484626	1.00[ASN][1000 genomes]
rs486123	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486537	1.00[ASN][1000 genomes]
rs486641	1.00[ASN][1000 genomes]
rs488992	1.00[ASN][1000 genomes]
rs489715	1.00[ASN][1000 genomes]
rs490565	1.00[ASN][1000 genomes]
rs490824	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs492366	1.00[ASN][1000 genomes]
rs492519	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.83[AMR][1000 genomes];0.83[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534338	1.00[ASN][1000 genomes]
rs534811	1.00[ASN][1000 genomes]
rs535566	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536909	1.00[ASN][1000 genomes]
rs537014	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538943	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538984	1.00[ASN][1000 genomes]
rs539595	1.00[ASN][1000 genomes]
rs542226	0.82[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];0.91[EUR][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]
rs552134	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568910	1.00[ASN][1000 genomes]
rs571593	1.00[ASN][1000 genomes]
rs571801	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs572031	1.00[ASN][1000 genomes]
rs572687	1.00[ASN][1000 genomes]
rs572980	1.00[ASN][1000 genomes]
rs573440	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580253	1.00[ASN][1000 genomes]
rs67513506	1.00[ASN][1000 genomes]
rs67835723	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692897	1.00[ASN][1000 genomes]
rs692914	1.00[ASN][1000 genomes]
rs7117758	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484389	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484390	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484391	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484394	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484399	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484400	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484401	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484402	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928549	1.00[ASN][1000 genomes]
rs7929852	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930712	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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
12	esv2756562	chr11:104937371-104981568	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
13	esv3450730	chr11:104938956-104968986	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
14	nsv1040275	chr11:104939029-104988325	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
15	nsv818863	chr11:104940204-104960997	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a
16	nsv975224	chr11:104941023-104949677	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a
17	nsv8871	chr11:104941750-104973508	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
18	esv33277	chr11:104944762-104969485	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104942400-104948000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:104942600-104948200	Weak transcription	NHEK	skin
3	chr11:104943000-104950000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:104943200-104948600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:104945400-104950800	Weak transcription	HUVEC	blood vessel
6	chr11:104946200-104949000	Weak transcription	Psoas Muscle	Psoas
7	chr11:104947400-104949400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:104947600-104949400	Enhancers	HMEC	breast

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