Variant report

Variant	rs12532846
Chromosome Location	chr7:150254879-150254880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs10254829	0.88[EUR][1000 genomes]
rs10952277	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11486916	0.93[EUR][1000 genomes]
rs11761189	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11764032	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11764049	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11764138	0.92[EUR][1000 genomes]
rs11764186	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11764483	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11766379	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11767574	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11767598	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11769703	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769828	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770334	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11771827	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11975366	0.84[EUR][1000 genomes]
rs11981436	0.93[EUR][1000 genomes]
rs11981515	0.93[EUR][1000 genomes]
rs11981976	0.89[EUR][1000 genomes]
rs11982037	0.89[EUR][1000 genomes]
rs12154687	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12397707	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12530578	0.91[EUR][1000 genomes]
rs12533735	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12535208	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12535647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12537789	0.85[EUR][1000 genomes]
rs12540251	0.85[EUR][1000 genomes]
rs12666582	0.87[EUR][1000 genomes]
rs12671272	0.93[EUR][1000 genomes]
rs12671275	0.93[EUR][1000 genomes]
rs12673131	0.92[EUR][1000 genomes]
rs12673133	0.93[EUR][1000 genomes]
rs12673168	0.93[EUR][1000 genomes]
rs12673197	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12703091	0.85[ASN][1000 genomes]
rs13220967	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13221085	0.87[EUR][1000 genomes]
rs13222892	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13223299	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13223343	0.86[EUR][1000 genomes]
rs13223607	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13223653	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13225097	0.87[EUR][1000 genomes]
rs13225393	0.88[EUR][1000 genomes]
rs13225610	0.88[EUR][1000 genomes]
rs13226190	0.82[ASN][1000 genomes]
rs13226396	0.86[EUR][1000 genomes]
rs13230583	0.85[ASN][1000 genomes]
rs13232683	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13232785	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13232989	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13234724	0.83[ASN][1000 genomes]
rs13235529	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13235632	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13235707	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13236567	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13236678	0.89[EUR][1000 genomes]
rs13238412	0.85[ASN][1000 genomes]
rs13240099	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13240106	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1578916	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1608158	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17542143	0.82[ASN][1000 genomes]
rs17837503	0.86[EUR][1000 genomes]
rs2204131	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2373805	0.93[EUR][1000 genomes]
rs2373806	0.93[EUR][1000 genomes]
rs2888664	0.93[EUR][1000 genomes]
rs34035483	0.91[EUR][1000 genomes]
rs34079857	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34097488	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34118164	0.93[EUR][1000 genomes]
rs34176120	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34208822	0.85[EUR][1000 genomes]
rs34476103	0.93[EUR][1000 genomes]
rs34534990	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34803745	0.93[EUR][1000 genomes]
rs34815266	0.86[EUR][1000 genomes]
rs34822032	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34900736	0.88[EUR][1000 genomes]
rs34912132	0.85[EUR][1000 genomes]
rs34990905	0.86[EUR][1000 genomes]
rs35113886	0.91[EUR][1000 genomes]
rs35114152	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35182796	0.89[EUR][1000 genomes]
rs35188092	0.91[EUR][1000 genomes]
rs35222868	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35233281	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35241484	0.89[EUR][1000 genomes]
rs35276692	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35342751	0.85[ASN][1000 genomes]
rs35346811	0.93[EUR][1000 genomes]
rs35408569	0.84[EUR][1000 genomes]
rs35428045	0.93[EUR][1000 genomes]
rs35432864	0.89[EUR][1000 genomes]
rs35464700	0.87[EUR][1000 genomes]
rs35492812	0.86[EUR][1000 genomes]
rs35512856	0.89[EUR][1000 genomes]
rs35659213	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35731211	0.85[EUR][1000 genomes]
rs35737876	0.89[EUR][1000 genomes]
rs35821632	0.91[EUR][1000 genomes]
rs35873531	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36200127	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3735080	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3735086	0.85[ASN][1000 genomes]
rs3807382	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4339549	0.93[EUR][1000 genomes]
rs4339550	0.91[EUR][1000 genomes]
rs4367453	0.87[EUR][1000 genomes]
rs4382385	0.91[EUR][1000 genomes]
rs4543461	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4573169	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4584065	0.93[EUR][1000 genomes]
rs55681398	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56272736	0.84[EUR][1000 genomes]
rs56325059	0.85[ASN][1000 genomes]
rs57729315	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57899656	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58391005	0.90[EUR][1000 genomes]
rs60213500	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62491810	0.85[ASN][1000 genomes]
rs62491812	0.82[ASN][1000 genomes]
rs62502277	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62502293	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62502294	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62502295	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62502296	0.92[EUR][1000 genomes]
rs62502297	0.93[EUR][1000 genomes]
rs62502298	0.93[EUR][1000 genomes]
rs62502300	0.93[EUR][1000 genomes]
rs62502326	0.93[EUR][1000 genomes]
rs62502342	0.84[EUR][1000 genomes]
rs62502349	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62503201	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62504164	0.86[EUR][1000 genomes]
rs62504165	0.87[EUR][1000 genomes]
rs6942848	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6950079	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6950421	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6951360	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6954076	0.89[EUR][1000 genomes]
rs6954709	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6954884	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6954937	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6968256	0.84[EUR][1000 genomes]
rs6969250	0.91[EUR][1000 genomes]
rs6971133	0.88[EUR][1000 genomes]
rs6971221	0.89[EUR][1000 genomes]
rs6971529	0.89[EUR][1000 genomes]
rs6978270	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978778	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71539836	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73161782	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73163513	0.91[EUR][1000 genomes]
rs7455366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7781524	0.93[EUR][1000 genomes]
rs7781834	0.88[EUR][1000 genomes]
rs7781992	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7783326	0.89[EUR][1000 genomes]
rs7784050	0.89[EUR][1000 genomes]
rs7784108	0.86[EUR][1000 genomes]
rs7788112	0.88[EUR][1000 genomes]
rs7788300	0.88[EUR][1000 genomes]
rs7788683	0.88[EUR][1000 genomes]
rs7788885	0.88[EUR][1000 genomes]
rs7796338	0.93[EUR][1000 genomes]
rs7798629	0.86[EUR][1000 genomes]
rs7808446	0.89[EUR][1000 genomes]
rs9768447	0.89[EUR][1000 genomes]
rs9770112	0.86[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	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3341786	chr7:150220353-150269134	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv16529	chr7:150249312-150312843	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12532846	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150252600-150255400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:150254000-150255000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:150254000-150255000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150254000-150255000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:150254000-150255200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:150254000-150255200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:150254000-150255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150254000-150255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:150254000-150255400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:150254200-150255200	Weak transcription	Primary T cells from cord blood	blood
11	chr7:150254200-150255200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:150254200-150255200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:150254800-150256000	Enhancers	Primary T helper cells fromperipheralblood	blood

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