Variant report

Variant	rs7808446
Chromosome Location	chr7:150214465-150214466
allele	G/T
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	STAT3	chr7:150214286-150214801	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:150214084-150214805	HUVEC	blood vessel:	n/a	n/a
3	FOS	chr7:150213926-150214680	HUVEC	blood vessel:	n/a	chr7:150214252-150214263

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150208954..150212624-chr7:150214367..150216129,3	K562	blood:

Variant related genes	Relation type
STRADBP1	TF binding region
ENSG00000213205	Chromatin interaction
ENSG00000179144	Chromatin interaction

Extended variants
information (count: 166 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10254829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952277	0.82[EUR][1000 genomes]
rs11486916	0.87[EUR][1000 genomes]
rs11761189	0.87[EUR][1000 genomes]
rs11764032	0.85[EUR][1000 genomes]
rs11764049	0.84[EUR][1000 genomes]
rs11764138	0.85[EUR][1000 genomes]
rs11764186	0.87[EUR][1000 genomes]
rs11764483	0.87[EUR][1000 genomes]
rs11766379	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11767574	0.83[EUR][1000 genomes]
rs11767598	0.85[EUR][1000 genomes]
rs11769703	0.91[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs11769828	0.91[EUR][1000 genomes]
rs11770334	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11771827	0.92[EUR][1000 genomes]
rs11981436	0.87[EUR][1000 genomes]
rs11981515	0.87[EUR][1000 genomes]
rs11981976	0.84[EUR][1000 genomes]
rs11982037	0.84[EUR][1000 genomes]
rs12154687	0.83[EUR][1000 genomes]
rs1234357	0.82[JPT][hapmap]
rs12397707	0.81[EUR][1000 genomes]
rs12530578	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532846	0.89[EUR][1000 genomes]
rs12533735	0.92[EUR][1000 genomes]
rs12535208	0.80[EUR][1000 genomes]
rs12535647	0.92[EUR][1000 genomes]
rs12537789	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs12540251	0.81[EUR][1000 genomes]
rs12666582	0.83[EUR][1000 genomes]
rs12671272	0.87[EUR][1000 genomes]
rs12671275	0.87[EUR][1000 genomes]
rs12673131	0.86[EUR][1000 genomes]
rs12673133	0.87[EUR][1000 genomes]
rs12673168	0.87[EUR][1000 genomes]
rs12673197	0.85[EUR][1000 genomes]
rs13220967	0.83[EUR][1000 genomes]
rs13221085	0.81[EUR][1000 genomes]
rs13222892	0.88[EUR][1000 genomes]
rs13223299	0.85[EUR][1000 genomes]
rs13223343	0.81[EUR][1000 genomes]
rs13223607	0.81[EUR][1000 genomes]
rs13223653	0.82[EUR][1000 genomes]
rs13225097	0.83[EUR][1000 genomes]
rs13225393	0.83[EUR][1000 genomes]
rs13225610	0.83[EUR][1000 genomes]
rs13226396	0.83[EUR][1000 genomes]
rs13232683	0.87[EUR][1000 genomes]
rs13232785	0.85[EUR][1000 genomes]
rs13232989	0.87[EUR][1000 genomes]
rs13234724	0.83[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs13235529	0.87[EUR][1000 genomes]
rs13235632	0.86[EUR][1000 genomes]
rs13235707	0.91[EUR][1000 genomes]
rs13236567	0.87[EUR][1000 genomes]
rs13236678	0.83[EUR][1000 genomes]
rs13240099	0.83[EUR][1000 genomes]
rs13240106	0.83[EUR][1000 genomes]
rs1578916	0.87[EUR][1000 genomes]
rs1608158	0.91[EUR][1000 genomes]
rs17837503	0.81[EUR][1000 genomes]
rs2204131	0.88[EUR][1000 genomes]
rs2373805	0.87[EUR][1000 genomes]
rs2373806	0.87[EUR][1000 genomes]
rs2888664	0.87[EUR][1000 genomes]
rs34035483	0.87[EUR][1000 genomes]
rs34079857	0.87[EUR][1000 genomes]
rs34097488	0.87[EUR][1000 genomes]
rs34118164	0.87[EUR][1000 genomes]
rs34176120	0.87[EUR][1000 genomes]
rs34208822	0.81[EUR][1000 genomes]
rs34476103	0.87[EUR][1000 genomes]
rs34534990	0.87[EUR][1000 genomes]
rs34803745	0.87[EUR][1000 genomes]
rs34815266	0.81[EUR][1000 genomes]
rs34822032	0.92[EUR][1000 genomes]
rs34900736	0.82[EUR][1000 genomes]
rs34912132	0.81[EUR][1000 genomes]
rs34990905	0.81[EUR][1000 genomes]
rs35113886	0.86[EUR][1000 genomes]
rs35114152	0.85[EUR][1000 genomes]
rs35182796	0.83[EUR][1000 genomes]
rs35188092	0.87[EUR][1000 genomes]
rs35222868	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35233281	0.87[EUR][1000 genomes]
rs35241484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35276692	0.85[EUR][1000 genomes]
rs35346811	0.87[EUR][1000 genomes]
rs35428045	0.87[EUR][1000 genomes]
rs35432864	0.83[EUR][1000 genomes]
rs35464700	0.81[EUR][1000 genomes]
rs35492812	0.81[EUR][1000 genomes]
rs35512856	0.84[EUR][1000 genomes]
rs35659213	0.87[EUR][1000 genomes]
rs35731211	0.81[EUR][1000 genomes]
rs35737876	0.85[EUR][1000 genomes]
rs35821632	0.86[EUR][1000 genomes]
rs35873531	0.85[EUR][1000 genomes]
rs36200127	0.87[EUR][1000 genomes]
rs3735080	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735086	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs3807382	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs4339549	0.87[EUR][1000 genomes]
rs4339550	0.85[EUR][1000 genomes]
rs4367453	0.83[EUR][1000 genomes]
rs4382385	0.85[EUR][1000 genomes]
rs4543461	0.87[EUR][1000 genomes]
rs4573169	0.87[EUR][1000 genomes]
rs4584065	0.87[EUR][1000 genomes]
rs57729315	0.87[EUR][1000 genomes]
rs57899656	0.86[EUR][1000 genomes]
rs58391005	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60213500	0.85[EUR][1000 genomes]
rs62502277	0.87[EUR][1000 genomes]
rs62502293	0.87[EUR][1000 genomes]
rs62502294	0.85[EUR][1000 genomes]
rs62502295	0.86[EUR][1000 genomes]
rs62502296	0.85[EUR][1000 genomes]
rs62502297	0.84[EUR][1000 genomes]
rs62502298	0.87[EUR][1000 genomes]
rs62502300	0.87[EUR][1000 genomes]
rs62502326	0.87[EUR][1000 genomes]
rs62502342	0.80[EUR][1000 genomes]
rs62503201	0.88[EUR][1000 genomes]
rs62504164	0.81[EUR][1000 genomes]
rs62504165	0.83[EUR][1000 genomes]
rs6942848	0.87[EUR][1000 genomes]
rs6950079	0.87[EUR][1000 genomes]
rs6950421	0.87[EUR][1000 genomes]
rs6951360	0.87[EUR][1000 genomes]
rs6954076	0.83[EUR][1000 genomes]
rs6954709	0.87[EUR][1000 genomes]
rs6954884	0.87[EUR][1000 genomes]
rs6954937	0.87[EUR][1000 genomes]
rs6969250	0.85[EUR][1000 genomes]
rs6971133	0.82[EUR][1000 genomes]
rs6971221	0.83[EUR][1000 genomes]
rs6971529	0.83[EUR][1000 genomes]
rs6978270	0.87[EUR][1000 genomes]
rs6978778	0.87[EUR][1000 genomes]
rs71539836	0.87[EUR][1000 genomes]
rs73161782	0.92[EUR][1000 genomes]
rs73163513	0.85[EUR][1000 genomes]
rs7455366	0.92[EUR][1000 genomes]
rs7781524	0.87[EUR][1000 genomes]
rs7781834	0.81[EUR][1000 genomes]
rs7781992	0.87[EUR][1000 genomes]
rs7783326	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784108	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7788112	0.83[EUR][1000 genomes]
rs7788300	0.83[EUR][1000 genomes]
rs7788683	0.83[EUR][1000 genomes]
rs7788885	0.83[EUR][1000 genomes]
rs7796338	0.87[EUR][1000 genomes]
rs9768447	0.83[EUR][1000 genomes]
rs9770112	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7808446	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150211000-150214600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:150211000-150214800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:150211000-150216200	Active TSS	Psoas Muscle	Psoas
4	chr7:150211000-150219000	Active TSS	Right Atrium	heart
5	chr7:150211200-150214800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:150211200-150217000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:150211400-150214600	Active TSS	Brain Anterior Caudate	brain
8	chr7:150211400-150215400	Active TSS	Left Ventricle	heart
9	chr7:150211400-150217400	Active TSS	Adipose Nuclei	Adipose
10	chr7:150211400-150218600	Active TSS	Duodenum Mucosa	Duodenum
11	chr7:150211600-150214600	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:150211600-150214800	Active TSS	Liver	Liver
13	chr7:150211600-150215400	Active TSS	Rectal Smooth Muscle	rectum
14	chr7:150211600-150215400	Active TSS	Right Ventricle	heart
15	chr7:150211600-150215400	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:150211600-150215800	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:150211600-150216000	Active TSS	Fetal Muscle Leg	muscle
18	chr7:150211600-150216800	Active TSS	Primary monocytes fromperipheralblood	blood
19	chr7:150211600-150216800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:150211600-150217000	Active TSS	Primary T cells from cord blood	blood
21	chr7:150211600-150217000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr7:150211800-150214800	Active TSS	Fetal Kidney	kidney
23	chr7:150211800-150215400	Active TSS	Thymus	Thymus
24	chr7:150211800-150216200	Active TSS	GM12878-XiMat	blood
25	chr7:150211800-150216800	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr7:150211800-150216800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:150211800-150216800	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:150211800-150217000	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr7:150212000-150215400	Active TSS	Small Intestine	intestine
30	chr7:150212200-150216200	Active TSS	Fetal Thymus	thymus
31	chr7:150212200-150218600	Active TSS	Primary B cells from cord blood	blood
32	chr7:150212400-150214600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:150212400-150216000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr7:150212600-150216000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:150212800-150217000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:150213000-150215200	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:150213000-150215400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr7:150213000-150216800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:150213200-150216800	Active TSS	Primary T cells fromperipheralblood	blood
40	chr7:150213200-150216800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:150213200-150217000	Weak transcription	Esophagus	oesophagus
42	chr7:150213200-150217000	Weak transcription	Lung	lung
43	chr7:150213200-150217000	Weak transcription	Spleen	Spleen
44	chr7:150213200-150217200	Weak transcription	Gastric	stomach
45	chr7:150213200-150217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:150213400-150214600	Flanking Active TSS	Dnd41	blood
47	chr7:150213600-150214800	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
48	chr7:150213600-150217200	Weak transcription	Fetal Stomach	stomach
49	chr7:150213800-150214600	Active TSS	Ovary	ovary
50	chr7:150214000-150218600	Weak transcription	Placenta	Placenta

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