Variant report

Variant	rs2177189
Chromosome Location	chr7:150263323-150263324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr7:150263288-150263446	MCF10A-Er-Src	breast:	n/a	n/a
2	SIN3A	chr7:150263290-150263484	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr7:150263258-150263536	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150263322-150263372	U87	brain:	n/a
2	chr7:150263322-150263372	SK-N-SH_RA	brain:	n/a
3	chr7:150263322-150263372	HNPCEpiC	eye:	n/a
4	chr7:150263322-150263372	PANC-1	pancreas:	n/a
5	chr7:150263322-150263372	GM06990	blood:	n/a
6	chr7:150263322-150263372	K562	blood:	n/a
7	chr7:150263322-150263372	BE2_C	brain:	n/a
8	chr7:150263322-150263372	HCT-116	colon:	n/a
9	chr7:150263322-150263372	T-47D	breast:	n/a
10	chr7:150263322-150263372	CMK	blood:	n/a
11	chr7:150263322-150263372	HRCEpiC	kidney:	n/a
12	chr7:150263322-150263372	NB4	blood:	n/a
13	chr7:150263322-150263372	H1-hESC	embryonic stem cell:	embryo
14	chr7:150263322-150263372	HEEpiC	esophagus:	n/a
15	chr7:150263322-150263372	HMEC	breast:	n/a
16	chr7:150263322-150263372	HUVEC	blood vessel:	n/a
17	chr7:150263322-150263372	GM12892	blood:	n/a
18	chr7:150263322-150263372	AG04449	skin:	fetal
19	chr7:150263322-150263372	HIPEpiC	eye:	n/a
20	chr7:150263322-150263372	AoSMC	blood vessel:	n/a
21	chr7:150263322-150263372	HepG2	liver:	n/a
22	chr7:150263322-150263372	LNCaP	prostate:	n/a
23	chr7:150263322-150263372	HCPEpiC	choroid plexus:	n/a
24	chr7:150263322-150263372	SK-N-MC	brain:	n/a
25	chr7:150263322-150263372	PrEC	prostate:	n/a
26	chr7:150263322-150263372	GM19239	blood:	n/a
27	chr7:150263322-150263372	NT2-D1	testis:	n/a
28	chr7:150263322-150263372	HCM	heart:	n/a
29	chr7:150263322-150263372	BJ	skin:	n/a
30	chr7:150263322-150263372	GM12878	blood:	n/a
31	chr7:150263322-150263372	SK-N-SH	brain:	n/a
32	chr7:150263322-150263372	Hepatocyte	liver:	n/a
33	chr7:150263322-150263372	RPTEC	kidney:	n/a
34	chr7:150263322-150263372	AG09309	skin:	n/a
35	chr7:150263322-150263372	A549	lung:	n/a
36	chr7:150263322-150263372	HL-60	blood:	n/a
37	chr7:150263322-150263372	ECC-1	luminal epithelium:	n/a
38	chr7:150263322-150263372	HEK293	kidney:	embryo
39	chr7:150263322-150263372	AG04450	lung:	fetal
40	chr7:150263322-150263372	HRPEpiC	eye:	n/a
41	chr7:150263322-150263372	SKMC	muscle:	n/a
42	chr7:150263322-150263372	HCF	heart:	n/a
43	chr7:150263322-150263372	PFSK-1	brain:	n/a
44	chr7:150263322-150263372	HPAEpiC	pulmonary alveolar:	n/a
45	chr7:150263322-150263372	SAEC	small airway:	n/a
46	chr7:150263322-150263372	HAEpiC	amniotic membrane:	n/a
47	chr7:150263322-150263372	Jurkat	blood:	n/a
48	chr7:150263322-150263372	GM12891	blood:	n/a
49	chr7:150263322-150263372	MCF10A-Er-Src	breast:	n/a
50	chr7:150263322-150263372	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
GIMAP4	TF binding region
GIMAP4	CpG island

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1110093	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760959	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760960	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11762727	1.00[ASW][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs11765395	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11768988	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11769223	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770957	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11771561	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11772952	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12703077	0.92[JPT][hapmap]
rs12703083	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222905	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224067	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13231883	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13232597	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242186	1.00[ASW][hapmap];0.80[CEU][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2293172	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2293174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2373802	0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs2373815	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34211617	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34545650	0.88[ASN][1000 genomes]
rs35194540	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35225135	0.80[ASN][1000 genomes]
rs35388682	0.80[EUR][1000 genomes]
rs35496043	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35677477	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36185661	0.88[ASN][1000 genomes]
rs3735079	0.92[JPT][hapmap]
rs3807378	0.92[ASN][1000 genomes]
rs4725345	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4725348	0.80[ASN][1000 genomes]
rs4725905	0.92[JPT][hapmap]
rs4725906	0.92[JPT][hapmap]
rs4725908	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4725921	0.88[ASN][1000 genomes]
rs58414124	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62502270	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73163503	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9691508	1.00[ASW][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
8	esv3341786	chr7:150220353-150269134	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv16529	chr7:150249312-150312843	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	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
11	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2177189	GIMAP4	cis	lymphoblastoid	seeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150260400-150264600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:150260800-150264200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:150260800-150265000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:150261600-150263600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:150261600-150263800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:150261800-150263600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:150261800-150263800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:150261800-150263800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:150262000-150264400	Weak transcription	Fetal Stomach	stomach
10	chr7:150262000-150265000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:150262200-150263600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr7:150262200-150263600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:150262400-150263400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:150262400-150263800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr7:150262400-150264600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:150262600-150263600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr7:150262600-150263600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:150262600-150263600	Weak transcription	HUVEC	blood vessel
19	chr7:150262600-150263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:150262600-150263800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:150262600-150264600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:150262800-150263400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:150263000-150263400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:150263000-150264400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr7:150263000-150264400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr7:150263200-150263400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:150263200-150263600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr7:150263200-150263800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:150263200-150263800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:150263200-150264200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:150263200-150264200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr7:150263200-150264200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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