Variant report

Variant	rs13226190
Chromosome Location	chr7:150326562-150326563
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10254829	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs11764032	0.83[ASN][1000 genomes]
rs11764483	0.88[ASN][1000 genomes]
rs11767598	0.81[ASN][1000 genomes]
rs11769703	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11769828	0.85[ASN][1000 genomes]
rs11771827	0.85[ASN][1000 genomes]
rs11981976	0.80[EUR][1000 genomes]
rs11982037	0.80[EUR][1000 genomes]
rs12154435	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12154436	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12154687	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1234357	0.93[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12397707	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12532045	0.90[ASN][1000 genomes]
rs12532846	0.82[ASN][1000 genomes]
rs12533735	0.85[ASN][1000 genomes]
rs12535208	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535647	0.85[ASN][1000 genomes]
rs12537789	0.95[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12540251	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12540286	0.83[EUR][1000 genomes]
rs12666582	0.84[EUR][1000 genomes]
rs12703091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1316352	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13220967	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13221085	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13223607	0.88[ASN][1000 genomes]
rs13223653	0.88[ASN][1000 genomes]
rs13225097	0.84[EUR][1000 genomes]
rs13225393	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13225610	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13225905	0.90[ASN][1000 genomes]
rs13230583	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13234724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13235707	0.85[ASN][1000 genomes]
rs13236678	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13238412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13240099	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13240106	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1403220	0.90[ASN][1000 genomes]
rs1578916	0.88[ASN][1000 genomes]
rs1608158	0.85[ASN][1000 genomes]
rs17542143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17837503	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2204131	0.88[ASN][1000 genomes]
rs34030180	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34079857	0.88[ASN][1000 genomes]
rs34097488	0.88[ASN][1000 genomes]
rs34176120	0.88[ASN][1000 genomes]
rs34208822	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34396063	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34585329	0.90[ASN][1000 genomes]
rs34815266	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34822032	0.85[ASN][1000 genomes]
rs34912132	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34940374	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35114152	0.88[ASN][1000 genomes]
rs35182796	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35233281	0.88[ASN][1000 genomes]
rs35276692	0.88[ASN][1000 genomes]
rs35283918	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35285840	0.90[ASN][1000 genomes]
rs35329030	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35342751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35432864	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35464700	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35492812	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35659213	0.88[ASN][1000 genomes]
rs35731211	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35760614	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35873531	0.88[ASN][1000 genomes]
rs36020504	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs36065681	0.90[ASN][1000 genomes]
rs36200127	0.86[ASN][1000 genomes]
rs3735080	0.86[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs3735086	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3807382	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.88[ASN][1000 genomes]
rs4543461	0.88[ASN][1000 genomes]
rs4573169	0.88[ASN][1000 genomes]
rs55681398	0.89[ASN][1000 genomes]
rs56138121	0.90[ASN][1000 genomes]
rs56279394	0.90[ASN][1000 genomes]
rs56325059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56412316	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57729315	0.88[ASN][1000 genomes]
rs57899656	0.88[ASN][1000 genomes]
rs59468128	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62490361	0.90[ASN][1000 genomes]
rs62490366	0.90[ASN][1000 genomes]
rs62491810	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62491812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62491814	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62491829	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62502277	0.88[ASN][1000 genomes]
rs62502293	0.88[ASN][1000 genomes]
rs62502294	0.88[ASN][1000 genomes]
rs62502349	0.83[ASN][1000 genomes]
rs62503201	0.87[ASN][1000 genomes]
rs62504165	0.81[EUR][1000 genomes]
rs6951360	0.88[ASN][1000 genomes]
rs6954076	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6971133	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6971221	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6971529	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6978270	0.84[ASN][1000 genomes]
rs6978778	0.88[ASN][1000 genomes]
rs71539836	0.86[ASN][1000 genomes]
rs73161782	0.84[ASN][1000 genomes]
rs73474862	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7455366	0.85[ASN][1000 genomes]
rs7784050	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs7784108	0.82[CEU][hapmap]
rs7788112	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7788300	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7788683	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7788885	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7808446	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs954395	0.90[ASN][1000 genomes]
rs9768447	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9770112	0.82[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13226190	ZNF282	cis	parietal	SCAN
rs13226190	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150321800-150326800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr7:150322200-150328400	Weak transcription	Fetal Intestine Small	intestine
3	chr7:150322600-150326800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr7:150323200-150327200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:150323200-150327400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr7:150323200-150327400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr7:150323200-150327600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr7:150323200-150327600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:150323200-150327800	Genic enhancers	Spleen	Spleen
10	chr7:150323400-150327600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:150323400-150327600	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:150323400-150327600	Strong transcription	Thymus	Thymus
13	chr7:150323400-150327800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:150323400-150328200	Weak transcription	Brain Substantia Nigra	brain
15	chr7:150323600-150327200	Genic enhancers	Adipose Nuclei	Adipose
16	chr7:150323600-150327400	Enhancers	Right Atrium	heart
17	chr7:150323600-150328000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
18	chr7:150323800-150328000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:150323800-150328400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:150324000-150327600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
21	chr7:150324000-150327600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:150324000-150329200	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr7:150324400-150327000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:150324600-150327000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr7:150324800-150327600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:150325000-150327000	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr7:150325000-150328200	Weak transcription	Colonic Mucosa	Colon
28	chr7:150325200-150326600	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:150325400-150327200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr7:150325400-150327800	Weak transcription	Pancreas	Pancrea
31	chr7:150325600-150326600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:150325600-150327600	Weak transcription	Gastric	stomach
33	chr7:150325600-150328400	Enhancers	Right Ventricle	heart
34	chr7:150326000-150326600	Flanking Active TSS	Fetal Heart	heart
35	chr7:150326000-150326800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
36	chr7:150326000-150327000	Genic enhancers	HUVEC	blood vessel
37	chr7:150326000-150327400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:150326200-150326600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:150326200-150326800	Strong transcription	Fetal Thymus	thymus
40	chr7:150326200-150326800	Strong transcription	Lung	lung
41	chr7:150326200-150327400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:150326200-150327400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:150326200-150327600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:150326200-150327600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
45	chr7:150326400-150326600	Strong transcription	Placenta	Placenta
46	chr7:150326400-150327000	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
47	chr7:150326400-150327000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:150326400-150327400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:150326400-150327600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
50	chr7:150326400-150327600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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