Variant report

Variant	rs12535208
Chromosome Location	chr7:150312857-150312858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150312816-150312872	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000232361	TF binding region

Extended variants
information (count: 203 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:196)

rs_ID	r²[population]
rs10952277	0.86[EUR][1000 genomes]
rs11486916	0.90[EUR][1000 genomes]
rs11761189	0.90[EUR][1000 genomes]
rs11764032	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11764049	0.87[EUR][1000 genomes]
rs11764138	0.88[EUR][1000 genomes]
rs11764186	0.90[EUR][1000 genomes]
rs11764483	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11767574	0.85[EUR][1000 genomes]
rs11767598	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11769703	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11769828	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11771827	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11975366	0.82[EUR][1000 genomes]
rs11981436	0.90[EUR][1000 genomes]
rs11981515	0.90[EUR][1000 genomes]
rs11981976	0.87[EUR][1000 genomes]
rs11982037	0.87[EUR][1000 genomes]
rs12154435	0.89[ASN][1000 genomes]
rs12154436	0.89[ASN][1000 genomes]
rs12154687	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12397707	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12530578	0.80[EUR][1000 genomes]
rs12532045	0.85[ASN][1000 genomes]
rs12532846	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12533735	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12535647	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12537789	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12540251	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12540286	0.92[EUR][1000 genomes]
rs12666582	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12671272	0.90[EUR][1000 genomes]
rs12671275	0.90[EUR][1000 genomes]
rs12673131	0.89[EUR][1000 genomes]
rs12673133	0.90[EUR][1000 genomes]
rs12673168	0.90[EUR][1000 genomes]
rs12673197	0.87[EUR][1000 genomes]
rs12703091	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1316352	0.89[ASN][1000 genomes]
rs13220967	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13221085	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13222892	0.89[EUR][1000 genomes]
rs13223299	0.89[EUR][1000 genomes]
rs13223343	0.83[EUR][1000 genomes]
rs13223607	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13223653	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13225097	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13225393	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13225610	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13225905	0.85[ASN][1000 genomes]
rs13226190	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13226396	0.84[EUR][1000 genomes]
rs13230583	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13232683	0.90[EUR][1000 genomes]
rs13232785	0.88[EUR][1000 genomes]
rs13232989	0.90[EUR][1000 genomes]
rs13234724	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235529	0.90[EUR][1000 genomes]
rs13235632	0.89[EUR][1000 genomes]
rs13235707	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13236567	0.90[EUR][1000 genomes]
rs13236678	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13238412	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13240099	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13240106	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13241121	0.83[EUR][1000 genomes]
rs1403220	0.85[ASN][1000 genomes]
rs1578916	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1608158	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17542143	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17837503	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2204131	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2373805	0.90[EUR][1000 genomes]
rs2373806	0.90[EUR][1000 genomes]
rs2888664	0.90[EUR][1000 genomes]
rs34030180	0.88[ASN][1000 genomes]
rs34035483	0.90[EUR][1000 genomes]
rs34079857	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34097488	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34118164	0.90[EUR][1000 genomes]
rs34176120	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34208822	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34396063	0.89[ASN][1000 genomes]
rs34476103	0.90[EUR][1000 genomes]
rs34534990	0.90[EUR][1000 genomes]
rs34585329	0.85[ASN][1000 genomes]
rs34803745	0.88[EUR][1000 genomes]
rs34815266	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34822032	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34900736	0.83[EUR][1000 genomes]
rs34912132	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34940374	0.92[ASN][1000 genomes]
rs34990905	0.83[EUR][1000 genomes]
rs35113886	0.89[EUR][1000 genomes]
rs35114152	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35182796	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35188092	0.90[EUR][1000 genomes]
rs35222868	0.81[EUR][1000 genomes]
rs35233281	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35241484	0.80[EUR][1000 genomes]
rs35276692	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35283918	0.91[ASN][1000 genomes]
rs35285840	0.85[ASN][1000 genomes]
rs35329030	0.89[ASN][1000 genomes]
rs35342751	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35346811	0.90[EUR][1000 genomes]
rs35408569	0.80[EUR][1000 genomes]
rs35428045	0.90[EUR][1000 genomes]
rs35432864	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35464700	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35492812	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35512856	0.88[EUR][1000 genomes]
rs35659213	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35731211	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35737876	0.89[EUR][1000 genomes]
rs35760614	0.91[ASN][1000 genomes]
rs35821632	0.91[EUR][1000 genomes]
rs35873531	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36020504	0.89[ASN][1000 genomes]
rs36065681	0.85[ASN][1000 genomes]
rs36200127	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3735080	0.82[EUR][1000 genomes]
rs3735086	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3807382	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4339549	0.90[EUR][1000 genomes]
rs4339550	0.88[EUR][1000 genomes]
rs4367453	0.90[EUR][1000 genomes]
rs4382385	0.88[EUR][1000 genomes]
rs4543461	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4573169	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4584065	0.90[EUR][1000 genomes]
rs55681398	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56138121	0.85[ASN][1000 genomes]
rs56272736	0.82[EUR][1000 genomes]
rs56279394	0.85[ASN][1000 genomes]
rs56325059	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56412316	0.89[ASN][1000 genomes]
rs57729315	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57899656	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59468128	0.90[ASN][1000 genomes]
rs60213500	0.87[EUR][1000 genomes]
rs62490361	0.85[ASN][1000 genomes]
rs62490366	0.85[ASN][1000 genomes]
rs62491810	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62491812	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62491814	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62491829	0.89[ASN][1000 genomes]
rs62502277	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62502293	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62502294	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62502295	0.89[EUR][1000 genomes]
rs62502296	0.88[EUR][1000 genomes]
rs62502297	0.87[EUR][1000 genomes]
rs62502298	0.90[EUR][1000 genomes]
rs62502300	0.90[EUR][1000 genomes]
rs62502326	0.90[EUR][1000 genomes]
rs62502342	0.84[EUR][1000 genomes]
rs62502349	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62503201	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62504164	0.88[EUR][1000 genomes]
rs62504165	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6942848	0.90[EUR][1000 genomes]
rs6950079	0.90[EUR][1000 genomes]
rs6950421	0.90[EUR][1000 genomes]
rs6951360	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6954076	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6954709	0.90[EUR][1000 genomes]
rs6954884	0.90[EUR][1000 genomes]
rs6954937	0.90[EUR][1000 genomes]
rs6968256	0.81[EUR][1000 genomes]
rs6969250	0.88[EUR][1000 genomes]
rs6971133	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6971221	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6971529	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6978270	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6978778	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71539836	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73161782	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73163513	0.88[EUR][1000 genomes]
rs73474862	0.89[ASN][1000 genomes]
rs7455366	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7781524	0.90[EUR][1000 genomes]
rs7781834	0.83[EUR][1000 genomes]
rs7781992	0.90[EUR][1000 genomes]
rs7783326	0.80[EUR][1000 genomes]
rs7784050	0.80[EUR][1000 genomes]
rs7788112	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7788300	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7788683	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7788885	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7796338	0.90[EUR][1000 genomes]
rs7798629	0.81[EUR][1000 genomes]
rs7808446	0.80[EUR][1000 genomes]
rs954395	0.85[ASN][1000 genomes]
rs9768447	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9770112	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	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
7	esv3388935	chr7:150301204-150374532	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12535208	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150300600-150316800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:150309000-150313000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:150311400-150313400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr7:150312000-150314800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr7:150312200-150317000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr7:150312400-150313200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:150312400-150317000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:150312400-150321800	Weak transcription	Dnd41	blood
9	chr7:150312600-150317600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:150312600-150317600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:150312800-150313200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:150312800-150314400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:150312800-150317200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:150312800-150323000	Weak transcription	Fetal Thymus	thymus

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