Variant report

Variant	rs34940374
Chromosome Location	chr7:150331377-150331378
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	MAFK	chr7:150331044-150331382	IMR90	lung:	n/a	chr7:150331200-150331215
2	MAFF	chr7:150331023-150331379	HepG2	liver:	n/a	chr7:150331198-150331216
3	MAFF	chr7:150331032-150331387	K562	blood:	n/a	chr7:150331198-150331216
4	MAFK	chr7:150331030-150331382	HepG2	liver:	n/a	chr7:150331200-150331215

Variant related genes	Relation type
GIMAP6	TF binding region

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11764032	0.80[ASN][1000 genomes]
rs11764483	0.85[ASN][1000 genomes]
rs11769703	0.85[ASN][1000 genomes]
rs11769828	0.83[ASN][1000 genomes]
rs11771827	0.83[ASN][1000 genomes]
rs12154435	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12154436	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12154687	0.93[ASN][1000 genomes]
rs1234357	0.84[ASN][1000 genomes]
rs12397707	0.91[ASN][1000 genomes]
rs12532045	0.92[ASN][1000 genomes]
rs12533735	0.83[ASN][1000 genomes]
rs12535208	0.92[ASN][1000 genomes]
rs12535647	0.83[ASN][1000 genomes]
rs12703091	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1316352	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13220967	0.93[ASN][1000 genomes]
rs13223607	0.85[ASN][1000 genomes]
rs13223653	0.85[ASN][1000 genomes]
rs13225905	0.92[ASN][1000 genomes]
rs13226190	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13230583	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13234724	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235707	0.83[ASN][1000 genomes]
rs13238412	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13240099	0.93[ASN][1000 genomes]
rs13240106	0.93[ASN][1000 genomes]
rs1403220	0.92[ASN][1000 genomes]
rs1578916	0.85[ASN][1000 genomes]
rs1608158	0.83[ASN][1000 genomes]
rs17542143	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2204131	0.85[ASN][1000 genomes]
rs34030180	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34079857	0.85[ASN][1000 genomes]
rs34097488	0.85[ASN][1000 genomes]
rs34176120	0.85[ASN][1000 genomes]
rs34396063	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34585329	0.92[ASN][1000 genomes]
rs34822032	0.83[ASN][1000 genomes]
rs35114152	0.85[ASN][1000 genomes]
rs35233281	0.85[ASN][1000 genomes]
rs35276692	0.85[ASN][1000 genomes]
rs35283918	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35285840	0.92[ASN][1000 genomes]
rs35329030	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35342751	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35464700	0.82[ASN][1000 genomes]
rs35659213	0.85[ASN][1000 genomes]
rs35760614	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35873531	0.85[ASN][1000 genomes]
rs36020504	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36065681	0.92[ASN][1000 genomes]
rs36200127	0.84[ASN][1000 genomes]
rs3735086	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3807382	0.85[ASN][1000 genomes]
rs4543461	0.85[ASN][1000 genomes]
rs4573169	0.85[ASN][1000 genomes]
rs55681398	0.87[ASN][1000 genomes]
rs56138121	0.92[ASN][1000 genomes]
rs56279394	0.92[ASN][1000 genomes]
rs56325059	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56412316	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57729315	0.85[ASN][1000 genomes]
rs57899656	0.85[ASN][1000 genomes]
rs59468128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62490361	0.92[ASN][1000 genomes]
rs62490366	0.92[ASN][1000 genomes]
rs62491810	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62491812	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62491814	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491829	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62502277	0.85[ASN][1000 genomes]
rs62502293	0.85[ASN][1000 genomes]
rs62502294	0.85[ASN][1000 genomes]
rs62502349	0.81[ASN][1000 genomes]
rs62503201	0.84[ASN][1000 genomes]
rs6951360	0.85[ASN][1000 genomes]
rs6978270	0.82[ASN][1000 genomes]
rs6978778	0.85[ASN][1000 genomes]
rs71539836	0.84[ASN][1000 genomes]
rs73161782	0.82[ASN][1000 genomes]
rs73474862	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7455366	0.83[ASN][1000 genomes]
rs954395	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
8	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150329800-150340200	Weak transcription	Left Ventricle	heart
2	chr7:150330000-150331400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:150330000-150332000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr7:150330000-150332200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:150330200-150332000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:150330200-150332200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:150330200-150332200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150330200-150332400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:150330200-150332400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr7:150330400-150331600	Enhancers	Dnd41	blood
11	chr7:150330400-150331800	Enhancers	Primary T cells from cord blood	blood
12	chr7:150330600-150332000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr7:150330600-150333400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:150330600-150335000	Weak transcription	Fetal Thymus	thymus
15	chr7:150330800-150331400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr7:150331000-150331400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr7:150331200-150332200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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