Variant report

Variant	rs62491814
Chromosome Location	chr7:150328200-150328201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

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	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12154436	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12154687	0.81[EUR][1000 genomes];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	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12535647	0.83[ASN][1000 genomes]
rs12537789	0.85[EUR][1000 genomes]
rs12540251	0.85[EUR][1000 genomes]
rs12540286	0.83[EUR][1000 genomes]
rs12666582	0.81[EUR][1000 genomes]
rs12703091	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1316352	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13220967	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13221085	0.80[EUR][1000 genomes]
rs13223607	0.85[ASN][1000 genomes]
rs13223653	0.85[ASN][1000 genomes]
rs13225097	0.81[EUR][1000 genomes]
rs13225393	0.82[EUR][1000 genomes]
rs13225610	0.82[EUR][1000 genomes]
rs13225905	0.92[ASN][1000 genomes]
rs13226190	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13230583	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13234724	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235707	0.83[ASN][1000 genomes]
rs13236678	0.81[EUR][1000 genomes]
rs13238412	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13240099	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13240106	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1403220	0.92[ASN][1000 genomes]
rs1578916	0.85[ASN][1000 genomes]
rs1608158	0.83[ASN][1000 genomes]
rs17542143	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17837503	0.84[EUR][1000 genomes]
rs2204131	0.85[ASN][1000 genomes]
rs34030180	0.87[AMR][1000 genomes];0.81[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]
rs34208822	0.85[EUR][1000 genomes]
rs34396063	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34585329	0.92[ASN][1000 genomes]
rs34815266	0.84[EUR][1000 genomes]
rs34822032	0.83[ASN][1000 genomes]
rs34912132	0.85[EUR][1000 genomes]
rs34940374	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35114152	0.85[ASN][1000 genomes]
rs35182796	0.81[EUR][1000 genomes]
rs35233281	0.85[ASN][1000 genomes]
rs35276692	0.85[ASN][1000 genomes]
rs35283918	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35285840	0.92[ASN][1000 genomes]
rs35329030	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35342751	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35432864	0.81[EUR][1000 genomes]
rs35464700	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35492812	0.84[EUR][1000 genomes]
rs35659213	0.85[ASN][1000 genomes]
rs35731211	0.85[EUR][1000 genomes]
rs35760614	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35873531	0.85[ASN][1000 genomes]
rs36020504	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36065681	0.92[ASN][1000 genomes]
rs36200127	0.84[ASN][1000 genomes]
rs3735086	0.96[AMR][1000 genomes];0.98[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	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56412316	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57729315	0.85[ASN][1000 genomes]
rs57899656	0.85[ASN][1000 genomes]
rs59468128	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62490361	0.92[ASN][1000 genomes]
rs62490366	0.92[ASN][1000 genomes]
rs62491810	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62491812	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62491829	0.86[AMR][1000 genomes];0.81[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]
rs6954076	0.81[EUR][1000 genomes]
rs6971133	0.81[EUR][1000 genomes]
rs6971221	0.81[EUR][1000 genomes]
rs6971529	0.81[EUR][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	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7455366	0.83[ASN][1000 genomes]
rs7788112	0.82[EUR][1000 genomes]
rs7788300	0.82[EUR][1000 genomes]
rs7788683	0.82[EUR][1000 genomes]
rs7788885	0.82[EUR][1000 genomes]
rs954395	0.92[ASN][1000 genomes]
rs9768447	0.81[EUR][1000 genomes]
rs9770112	0.80[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62491814	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150322200-150328400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:150323400-150328200	Weak transcription	Brain Substantia Nigra	brain
3	chr7:150323800-150328400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:150324000-150329200	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr7:150325000-150328200	Weak transcription	Colonic Mucosa	Colon
6	chr7:150325600-150328400	Enhancers	Right Ventricle	heart
7	chr7:150326400-150328200	Weak transcription	Fetal Stomach	stomach
8	chr7:150327200-150328200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:150327400-150329400	Active TSS	Stomach Smooth Muscle	stomach
10	chr7:150327400-150329800	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:150327600-150328200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150327600-150328200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr7:150327600-150328400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr7:150327600-150328400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr7:150327600-150328400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:150327600-150328600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:150327600-150329000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:150327600-150329200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr7:150327600-150329600	Active TSS	Placenta	Placenta
20	chr7:150327600-150329800	Active TSS	Esophagus	oesophagus
21	chr7:150327600-150329800	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:150327600-150330000	Active TSS	Brain Hippocampus Middle	brain
23	chr7:150327600-150330000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:150327600-150330000	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr7:150327600-150330000	Flanking Active TSS	HUVEC	blood vessel
26	chr7:150327800-150328200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:150327800-150328200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr7:150327800-150328200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:150327800-150328200	Flanking Active TSS	Left Ventricle	heart
30	chr7:150327800-150328200	Enhancers	Spleen	Spleen
31	chr7:150327800-150328600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr7:150327800-150328800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:150327800-150328800	Flanking Active TSS	Fetal Thymus	thymus
34	chr7:150327800-150329400	Active TSS	Pancreas	Pancrea
35	chr7:150327800-150329600	Active TSS	Liver	Liver
36	chr7:150327800-150329600	Active TSS	Lung	lung
37	chr7:150327800-150329800	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:150327800-150330000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr7:150327800-150330000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:150327800-150330000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:150327800-150330000	Active TSS	Right Atrium	heart
42	chr7:150327800-150330200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:150328000-150328200	Flanking Active TSS	GM12878-XiMat	blood
44	chr7:150328000-150328400	Flanking Active TSS	Fetal Heart	heart
45	chr7:150328000-150328400	Weak transcription	Gastric	stomach
46	chr7:150328000-150328800	Flanking Active TSS	Thymus	Thymus
47	chr7:150328000-150329400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:150328000-150329400	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:150328000-150329600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:150328000-150329600	Active TSS	Primary T killer memory cells from peripheral blood	blood

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