Variant report

Variant	rs12416756
Chromosome Location	chr11:104980307-104980308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:189)

rs_ID	r²[population]
rs10502046	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10502047	0.85[EUR][1000 genomes]
rs11606407	1.00[CHB][hapmap]
rs1212544	0.85[YRI][hapmap]
rs12281540	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417050	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419220	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421544	0.85[EUR][1000 genomes]
rs12421898	0.85[EUR][1000 genomes]
rs12787184	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12796365	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797290	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797775	0.85[EUR][1000 genomes]
rs12798696	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12800151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354322	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503391	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1503395	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1699089	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1699090	1.00[ASN][1000 genomes]
rs17103597	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17103670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103773	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103781	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103836	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103858	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103866	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103873	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103951	0.85[EUR][1000 genomes]
rs17103953	0.85[EUR][1000 genomes]
rs17376473	1.00[CHB][hapmap]
rs17376738	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377910	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17378343	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446518	1.00[CHB][hapmap]
rs1792749	1.00[ASN][1000 genomes]
rs1792774	1.00[ASN][1000 genomes]
rs1847301	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047840	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409065	0.85[EUR][1000 genomes]
rs3181184	1.00[CHB][hapmap]
rs3181327	1.00[CHB][hapmap]
rs3181328	1.00[CHB][hapmap]
rs3181330	1.00[CHB][hapmap]
rs3181334	1.00[CHB][hapmap]
rs34105770	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34146979	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34212668	0.85[EUR][1000 genomes]
rs34255114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34806541	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34819285	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35120805	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35136587	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35394521	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35560124	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35565964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35743576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35995863	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472938	1.00[YRI][hapmap]
rs473394	1.00[ASN][1000 genomes]
rs473549	1.00[ASN][1000 genomes]
rs475266	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754122	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754123	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754124	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754125	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755076	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755077	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755078	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755079	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755081	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476889	1.00[ASN][1000 genomes]
rs481736	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs481926	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483345	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs484626	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs486123	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs486537	1.00[ASN][1000 genomes]
rs486641	1.00[ASN][1000 genomes]
rs487128	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488992	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs489715	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs490565	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs490824	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs492366	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs492519	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[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]
rs497874	0.87[YRI][hapmap]
rs498892	1.00[ASN][1000 genomes]
rs499695	1.00[YRI][hapmap]
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[CHB][hapmap];1.00[ASN][1000 genomes]
rs503153	1.00[ASN][1000 genomes]
rs503323	0.87[YRI][hapmap]
rs504054	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs505901	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs507438	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs507509	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs508149	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs516255	1.00[ASN][1000 genomes]
rs516286	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs517736	1.00[ASN][1000 genomes]
rs518878	1.00[CHB][hapmap];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[CHB][hapmap];1.00[ASN][1000 genomes]
rs528076	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs529649	1.00[ASN][1000 genomes]
rs530009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs531542	1.00[ASN][1000 genomes]
rs531604	1.00[ASN][1000 genomes]
rs532391	0.85[YRI][hapmap]
rs533050	1.00[ASN][1000 genomes]
rs533436	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534338	1.00[ASN][1000 genomes]
rs534811	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs535566	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536909	1.00[ASN][1000 genomes]
rs537014	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs538984	1.00[ASN][1000 genomes]
rs539595	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs542226	1.00[ASN][1000 genomes]
rs542571	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs542774	1.00[ASN][1000 genomes]
rs543112	0.86[EUR][1000 genomes]
rs545911	1.00[ASN][1000 genomes]
rs546210	1.00[ASN][1000 genomes]
rs546449	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs548785	1.00[ASN][1000 genomes]
rs552134	1.00[ASN][1000 genomes]
rs554344	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs555301	1.00[ASN][1000 genomes]
rs556205	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs557371	1.00[YRI][hapmap]
rs557905	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs558315	1.00[ASN][1000 genomes]
rs560880	1.00[ASN][1000 genomes]
rs567303	0.89[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568910	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs571593	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs571801	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs572031	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs572687	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs572980	1.00[ASN][1000 genomes]
rs573440	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579663	0.85[YRI][hapmap]
rs580253	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs58131087	0.85[EUR][1000 genomes]
rs60235102	0.85[EUR][1000 genomes]
rs67513506	1.00[ASN][1000 genomes]
rs67835723	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692897	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs692914	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7117758	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123277	1.00[CHB][hapmap]
rs71484389	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484390	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484391	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484399	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484400	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484401	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484402	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928549	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7929852	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930712	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949293	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
9	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
10	nsv1040275	chr11:104939029-104988325	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
11	nsv949337	chr11:104950007-105510193	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv524985	chr11:104960997-104991640	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104972200-104980600	Weak transcription	Adipose Nuclei	Adipose
2	chr11:104972600-104981000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:104975000-104983400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:104977000-104980800	Enhancers	Hela-S3	cervix
5	chr11:104979000-104982600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:104979400-104980600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:104979400-104981600	Weak transcription	Placenta	Placenta
8	chr11:104979800-104980400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:104979800-104980800	Enhancers	NHEK	skin
10	chr11:104980000-104980800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:104980000-104980800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:104980200-104980800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr11:104980200-104980800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:104980200-104980800	Enhancers	Fetal Intestine Large	intestine
15	chr11:104980200-104980800	Enhancers	HUVEC	blood vessel
16	chr11:104980200-104981200	Enhancers	HMEC	breast
17	chr11:104980200-104981800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:104980200-104982200	Enhancers	Cortex derived primary cultured neurospheres	brain

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