Variant report

Variant	rs73476564
Chromosome Location	chr7:150382724-150382725
allele	C/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	POLR2A	chr7:150382488-150383876	GM12878	blood:	n/a	n/a
2	TAF1	chr7:150382566-150383000	GM12878	blood:	n/a	n/a
3	TBP	chr7:150382458-150383330	GM12878	blood:	n/a	n/a
4	MAX	chr7:150382557-150382877	K562	blood:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
5	BHLHE40	chr7:150382632-150382877	K562	blood:	n/a	n/a
6	TCF7L2	chr7:150382673-150382863	PANC-1	pancreas:	n/a	n/a
7	NFIC	chr7:150382516-150383162	GM12878	blood:	n/a	n/a
8	CTCF	chr7:150382673-150382760	K562	blood:	n/a	n/a
9	IKZF1	chr7:150382523-150383353	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:150382432-150383029	SK-N-MC	brain:	n/a	n/a
11	SPI1	chr7:150382607-150382893	GM12878	blood:	n/a	chr7:150382761-150382768
12	MYC	chr7:150382499-150382906	MCF10A-Er-Src	breast:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
13	RCOR1	chr7:150382357-150383057	GM12878	blood:	n/a	n/a
14	CTCF	chr7:150382675-150382785	Gliobla	brain:	n/a	n/a
15	RAD21	chr7:150382584-150382860	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr7:150382647-150382777	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr7:150382508-150382896	NB4	blood:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
18	MYC	chr7:150382562-150383017	NB4	blood:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
19	IRF1	chr7:150382626-150382901	K562	blood:	n/a	chr7:150382782-150382803
20	POLR2A	chr7:150382588-150383766	GM12878	blood:	n/a	n/a
21	USF1	chr7:150382556-150382872	SK-N-SH_RA	brain:	n/a	n/a
22	POLR2A	chr7:150382562-150383218	GM12892	blood:	n/a	n/a
23	CTCF	chr7:150382580-150382730	GM06990	blood:	n/a	n/a
24	MYC	chr7:150382545-150382874	K562	blood:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
25	USF1	chr7:150382555-150382926	SK-N-SH_RA	brain:	n/a	n/a
26	POLR2A	chr7:150382410-150383722	HUVEC	blood vessel:	n/a	n/a
27	ELK1	chr7:150382454-150382979	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:150382708-150382915	SK-N-SH	brain:	n/a	n/a
29	RAD21	chr7:150382634-150382803	SK-N-SH_RA	brain:	n/a	n/a
30	EBF1	chr7:150382270-150382910	GM12878	blood:	n/a	chr7:150382362-150382373
31	USF1	chr7:150382598-150382840	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:150382709-150382909	MCF10A-Er-Src	breast:	n/a	n/a
33	MAX	chr7:150382535-150382819	K562	blood:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
34	IRF1	chr7:150382556-150383004	K562	blood:	n/a	chr7:150382595-150382608 chr7:150382592-150382606 chr7:150382596-150382606 chr7:150382938-150382948 chr7:150382937-150382949 chr7:150382782-150382803 chr7:150382595-150382607
35	POLR2A	chr7:150382557-150383001	GM12892	blood:	n/a	n/a
36	BCLAF1	chr7:150382529-150383299	GM12878	blood:	n/a	n/a
37	CTCF	chr7:150382625-150382760	LNCaP	prostate:	n/a	n/a
38	MYC	chr7:150382603-150382838	K562	blood:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
39	BHLHE40	chr7:150382408-150382991	GM12878	blood:	n/a	n/a
40	NFE2	chr7:150382596-150382847	GM12878	blood:	n/a	n/a
41	MAX	chr7:150382526-150382907	GM12878	blood:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
42	POLR2A	chr7:150382658-150382991	GM12891	blood:	n/a	n/a
43	POLR2A	chr7:150382648-150382971	GM12891	blood:	n/a	n/a
44	POLR2A	chr7:150382561-150383701	GM12892	blood:	n/a	n/a
45	POLR2A	chr7:150382462-150383788	GM12891	blood:	n/a	n/a
46	MYC	chr7:150382530-150382820	MCF10A-Er-Src	breast:	n/a	chr7:150382711-150382721 chr7:150382713-150382720 chr7:150382711-150382721 chr7:150382712-150382721 chr7:150382712-150382721 chr7:150382710-150382720
47	IRF1	chr7:150382607-150383262	K562	blood:	n/a	chr7:150383132-150383146 chr7:150383131-150383142 chr7:150382938-150382948 chr7:150382937-150382949 chr7:150382782-150382803 chr7:150383131-150383143 chr7:150383128-150383142 chr7:150383132-150383142 chr7:150383131-150383143
48	SMC3	chr7:150382329-150383078	GM12878	blood:	n/a	n/a
49	EP300	chr7:150382332-150382912	GM12878	blood:	n/a	chr7:150382670-150382680
50	PML	chr7:150382648-150383040	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150382724-150382774	SK-N-SH	brain:	n/a
2	chr7:150382724-150382774	HCPEpiC	choroid plexus:	n/a
3	chr7:150382724-150382774	CMK	blood:	n/a
4	chr7:150382724-150382774	HAEpiC	amniotic membrane:	n/a
5	chr7:150382724-150382774	SKMC	muscle:	n/a
6	chr7:150382724-150382774	HCT-116	colon:	n/a
7	chr7:150382724-150382774	HRPEpiC	eye:	n/a
8	chr7:150382724-150382774	HMEC	breast:	n/a
9	chr7:150382724-150382774	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:150382724-150382774	K562	blood:	n/a
11	chr7:150382724-150382774	PANC-1	pancreas:	n/a
12	chr7:150382724-150382774	AG09309	skin:	n/a
13	chr7:150382724-150382774	HepG2	liver:	n/a
14	chr7:150382724-150382774	A549	lung:	n/a
15	chr7:150382724-150382774	U87	brain:	n/a
16	chr7:150382724-150382774	HL-60	blood:	n/a
17	chr7:150382724-150382774	AG09319	gingival:	n/a
18	chr7:150382724-150382774	IMR90	lung:	fetal
19	chr7:150382724-150382774	RPTEC	kidney:	n/a
20	chr7:150382724-150382774	HRE	kidney:	n/a
21	chr7:150382724-150382774	NHBE	bronchial:	n/a
22	chr7:150382724-150382774	SAEC	small airway:	n/a
23	chr7:150382724-150382774	AG04450	lung:	fetal
24	chr7:150382724-150382774	MCF10A-Er-Src	breast:	n/a
25	chr7:150382724-150382774	H1-hESC	embryonic stem cell:	embryo
26	chr7:150382724-150382774	GM12878	blood:	n/a
27	chr7:150382724-150382774	GM06990	blood:	n/a
28	chr7:150382724-150382774	BE2_C	brain:	n/a
29	chr7:150382724-150382774	GM12891	blood:	n/a
30	chr7:150382724-150382774	Jurkat	blood:	n/a
31	chr7:150382724-150382774	T-47D	breast:	n/a
32	chr7:150382724-150382774	HIPEpiC	eye:	n/a
33	chr7:150382724-150382774	HEK293	kidney:	embryo
34	chr7:150382724-150382774	NB4	blood:	n/a
35	chr7:150382724-150382774	HEEpiC	esophagus:	n/a
36	chr7:150382724-150382774	SK-N-MC	brain:	n/a
37	chr7:150382724-150382774	AG10803	skin:	n/a
38	chr7:150382724-150382774	ovcar-3	ovarian:	n/a
39	chr7:150382724-150382774	PrEC	prostate:	n/a
40	chr7:150382724-150382774	HUVEC	blood vessel:	n/a
41	chr7:150382724-150382774	Caco-2	colon:	n/a
42	chr7:150382724-150382774	HCF	heart:	n/a
43	chr7:150382724-150382774	AoSMC	blood vessel:	n/a
44	chr7:150382724-150382774	ECC-1	luminal epithelium:	n/a
45	chr7:150382724-150382774	NHDF-neo	bronchial:	n/a
46	chr7:150382724-150382774	HNPCEpiC	eye:	n/a
47	chr7:150382724-150382774	SK-N-SH_RA	brain:	n/a
48	chr7:150382724-150382774	LNCaP	prostate:	n/a
49	chr7:150382724-150382774	MCF-7	breast:	n/a
50	chr7:150382724-150382774	PFSK-1	brain:	n/a

Variant related genes	Relation type
GIMAP2	TF binding region
GIMAP2	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11973417	0.95[EUR][1000 genomes]
rs11983348	0.95[EUR][1000 genomes]
rs11983413	0.95[EUR][1000 genomes]
rs12671822	0.93[EUR][1000 genomes]
rs2080052	0.99[EUR][1000 genomes]
rs2098221	0.99[EUR][1000 genomes]
rs28736331	0.97[EUR][1000 genomes]
rs4725355	0.99[EUR][1000 genomes]
rs4725358	0.95[EUR][1000 genomes]
rs58288826	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59274837	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60774275	0.95[EUR][1000 genomes]
rs60958118	0.99[EUR][1000 genomes]
rs61199880	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960820	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73474878	0.95[EUR][1000 genomes]
rs73474880	0.95[EUR][1000 genomes]
rs73476552	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73476554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
8	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
9	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150381800-150382800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150382000-150382800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr7:150382000-150382800	Flanking Active TSS	Dnd41	blood
4	chr7:150382000-150382800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr7:150382200-150382800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:150382200-150382800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr7:150382200-150382800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150382200-150382800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:150382200-150382800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr7:150382200-150382800	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr7:150382200-150382800	Enhancers	Fetal Muscle Leg	muscle
12	chr7:150382200-150383200	Active TSS	Brain Anterior Caudate	brain
13	chr7:150382200-150383600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:150382200-150383600	Active TSS	Colonic Mucosa	Colon
15	chr7:150382200-150383800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:150382200-150383800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:150382200-150383800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:150382200-150383800	Active TSS	Stomach Smooth Muscle	stomach
19	chr7:150382200-150385400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:150382400-150382800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:150382400-150382800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:150382400-150382800	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr7:150382400-150382800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:150382400-150382800	Enhancers	Esophagus	oesophagus
25	chr7:150382400-150382800	Flanking Active TSS	Fetal Lung	lung
26	chr7:150382400-150382800	Flanking Active TSS	Fetal Thymus	thymus
27	chr7:150382400-150382800	Enhancers	Pancreas	Pancrea
28	chr7:150382400-150382800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:150382400-150382800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr7:150382400-150382800	Flanking Active TSS	GM12878-XiMat	blood
31	chr7:150382400-150382800	Flanking Active TSS	NHEK	skin
32	chr7:150382400-150383000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr7:150382400-150383000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr7:150382400-150383000	Active TSS	A549	lung
35	chr7:150382400-150383000	Active TSS	HMEC	breast
36	chr7:150382400-150383200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:150382400-150383200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:150382400-150383400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:150382400-150383400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:150382400-150383400	Active TSS	Osteobl	bone
41	chr7:150382400-150383600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:150382400-150383600	Active TSS	Brain Cingulate Gyrus	brain
43	chr7:150382400-150383600	Active TSS	Fetal Muscle Trunk	muscle
44	chr7:150382400-150383600	Active TSS	Ovary	ovary
45	chr7:150382400-150383800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr7:150382400-150383800	Active TSS	Brain Angular Gyrus	brain
47	chr7:150382400-150383800	Active TSS	Brain Hippocampus Middle	brain
48	chr7:150382400-150383800	Active TSS	Colon Smooth Muscle	Colon
49	chr7:150382400-150383800	Flanking Active TSS	HUVEC	blood vessel
50	chr7:150382400-150385000	Active TSS	Rectal Smooth Muscle	rectum

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