Variant report

Variant	rs12419483
Chromosome Location	chr11:36720815-36720816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:175)

rs_ID	r²[population]
rs10501158	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10501159	0.84[EUR][1000 genomes]
rs10501160	0.84[EUR][1000 genomes]
rs10501161	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10836580	0.84[EUR][1000 genomes]
rs10836581	0.84[EUR][1000 genomes]
rs11033708	0.84[EUR][1000 genomes]
rs11033712	0.84[EUR][1000 genomes]
rs11033717	0.84[EUR][1000 genomes]
rs11033725	0.84[EUR][1000 genomes]
rs11033727	0.84[EUR][1000 genomes]
rs11033731	0.98[EUR][1000 genomes]
rs11033732	0.98[EUR][1000 genomes]
rs11033733	0.98[EUR][1000 genomes]
rs11033734	0.95[EUR][1000 genomes]
rs11033735	0.84[EUR][1000 genomes]
rs11822918	0.81[EUR][1000 genomes]
rs12271660	0.98[EUR][1000 genomes]
rs12277101	0.98[EUR][1000 genomes]
rs12277310	0.98[EUR][1000 genomes]
rs12277468	0.98[EUR][1000 genomes]
rs12279449	0.84[EUR][1000 genomes]
rs12279924	0.84[EUR][1000 genomes]
rs12292391	0.95[EUR][1000 genomes]
rs12292943	0.84[EUR][1000 genomes]
rs12293987	0.84[EUR][1000 genomes]
rs12295400	0.84[EUR][1000 genomes]
rs12416842	0.85[EUR][1000 genomes]
rs12417057	0.85[EUR][1000 genomes]
rs12417264	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12417768	0.85[EUR][1000 genomes]
rs12417778	0.85[EUR][1000 genomes]
rs12417783	0.85[EUR][1000 genomes]
rs12418480	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419750	0.85[EUR][1000 genomes]
rs12420509	0.85[EUR][1000 genomes]
rs12420930	0.85[EUR][1000 genomes]
rs12420954	0.84[EUR][1000 genomes]
rs12421044	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421512	0.85[EUR][1000 genomes]
rs12421514	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421531	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12422069	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1391542	0.85[EUR][1000 genomes]
rs1391543	0.85[EUR][1000 genomes]
rs1498339	0.98[EUR][1000 genomes]
rs1498340	0.98[EUR][1000 genomes]
rs1498341	0.97[EUR][1000 genomes]
rs1498342	0.98[EUR][1000 genomes]
rs1498343	0.84[EUR][1000 genomes]
rs1498344	0.84[EUR][1000 genomes]
rs1515057	0.85[EUR][1000 genomes]
rs1566244	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16926237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929073	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16929119	0.85[EUR][1000 genomes]
rs16929126	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929136	0.84[EUR][1000 genomes]
rs16929138	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929141	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929145	0.85[EUR][1000 genomes]
rs16929147	0.85[EUR][1000 genomes]
rs16929149	0.85[EUR][1000 genomes]
rs16929170	0.85[EUR][1000 genomes]
rs16929178	0.82[EUR][1000 genomes]
rs16929182	0.83[EUR][1000 genomes]
rs16929194	0.85[EUR][1000 genomes]
rs16929197	0.85[EUR][1000 genomes]
rs16929201	0.85[EUR][1000 genomes]
rs16929204	0.85[EUR][1000 genomes]
rs16929208	0.84[EUR][1000 genomes]
rs16929216	0.85[EUR][1000 genomes]
rs16929222	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16929227	0.85[EUR][1000 genomes]
rs16929247	0.84[EUR][1000 genomes]
rs16929249	0.85[EUR][1000 genomes]
rs16929268	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1980131	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2056094	0.86[AMR][1000 genomes]
rs2422296	0.84[EUR][1000 genomes]
rs2422297	0.84[EUR][1000 genomes]
rs2901704	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34435837	0.84[EUR][1000 genomes]
rs35329885	0.84[EUR][1000 genomes]
rs3740957	0.85[EUR][1000 genomes]
rs4151000	0.86[AMR][1000 genomes]
rs4151040	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4151045	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5030488	1.00[ASN][1000 genomes]
rs5030489	1.00[ASN][1000 genomes]
rs57856061	0.88[EUR][1000 genomes]
rs58084113	0.84[EUR][1000 genomes]
rs58344758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58652755	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58889177	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59179248	0.88[EUR][1000 genomes]
rs60281434	0.88[EUR][1000 genomes]
rs61272071	0.98[EUR][1000 genomes]
rs61432856	0.84[EUR][1000 genomes]
rs61686617	0.84[EUR][1000 genomes]
rs7102491	0.85[EUR][1000 genomes]
rs7102864	0.85[EUR][1000 genomes]
rs7103064	0.84[EUR][1000 genomes]
rs7112274	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113687	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115697	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124815	0.84[EUR][1000 genomes]
rs7125002	0.84[EUR][1000 genomes]
rs7128419	0.84[EUR][1000 genomes]
rs7130097	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7130536	0.84[EUR][1000 genomes]
rs7130556	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131496	0.84[EUR][1000 genomes]
rs72640809	0.91[EUR][1000 genomes]
rs72640869	0.83[EUR][1000 genomes]
rs72640870	0.88[EUR][1000 genomes]
rs72640871	0.88[EUR][1000 genomes]
rs72640872	0.88[EUR][1000 genomes]
rs73437905	0.85[EUR][1000 genomes]
rs73437908	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73437936	0.85[EUR][1000 genomes]
rs73437939	0.85[EUR][1000 genomes]
rs73437947	0.84[EUR][1000 genomes]
rs73437955	0.85[EUR][1000 genomes]
rs73437958	0.85[EUR][1000 genomes]
rs73437965	0.85[EUR][1000 genomes]
rs73437967	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73437973	0.85[EUR][1000 genomes]
rs73437975	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73437989	0.84[EUR][1000 genomes]
rs73438001	0.84[EUR][1000 genomes]
rs73439913	0.95[EUR][1000 genomes]
rs73439916	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73439922	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73439925	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73439930	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73439932	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73439933	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73439937	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73439954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439965	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439971	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439975	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439987	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73439990	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73453401	0.90[AMR][1000 genomes]
rs73455516	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73455518	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73455531	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73455534	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73455539	0.84[EUR][1000 genomes]
rs73455545	0.85[EUR][1000 genomes]
rs73455548	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73455552	0.85[EUR][1000 genomes]
rs73455553	0.85[EUR][1000 genomes]
rs7926684	0.85[EUR][1000 genomes]
rs7927358	0.85[EUR][1000 genomes]
rs7929473	0.84[EUR][1000 genomes]
rs7929652	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937683	0.84[EUR][1000 genomes]
rs7944879	0.85[EUR][1000 genomes]
rs7946993	0.85[EUR][1000 genomes]
rs867801	0.84[EUR][1000 genomes]
rs867803	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs867804	0.84[EUR][1000 genomes]
rs868613	0.85[EUR][1000 genomes]
rs869206	0.84[EUR][1000 genomes]
rs869207	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs871912	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs872053	0.86[AMR][1000 genomes]
rs885374	0.85[EUR][1000 genomes]
rs955772	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs969611	0.85[EUR][1000 genomes]
rs9971465	0.98[EUR][1000 genomes]
rs9971578	0.98[EUR][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv832123	chr11:36582872-36757443	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv467792	chr11:36624187-36898373	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv554005	chr11:36624187-36898373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv467793	chr11:36632515-37171833	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv554006	chr11:36632515-37171833	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1047073	chr11:36711638-36812910	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1041508	chr11:36711638-36815367	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1043391	chr11:36711638-36817144	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv554007	chr11:36711834-36825618	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36718400-36721600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:36718400-36729000	Weak transcription	Fetal Stomach	stomach
3	chr11:36720400-36722200	Flanking Active TSS	Dnd41	blood
4	chr11:36720400-36725400	Enhancers	Fetal Thymus	thymus
5	chr11:36720600-36721000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:36720600-36721200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:36720600-36721200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:36720600-36721200	Enhancers	HMEC	breast
9	chr11:36720600-36721200	Enhancers	NHEK	skin
10	chr11:36720600-36724200	Enhancers	Thymus	Thymus
11	chr11:36720800-36721000	Enhancers	Fetal Intestine Small	intestine
12	chr11:36720800-36721200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:36720800-36721200	Enhancers	Duodenum Mucosa	Duodenum

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