Variant report

Variant	rs28472428
Chromosome Location	chr8:11561481-11561482
allele	C/G
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	MXI1	chr8:11561295-11562513	HepG2	liver:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
2	CTBP2	chr8:11559506-11563159	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr8:11561362-11561884	SK-N-SH	brain:	n/a	chr8:11561366-11561382 chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
4	USF1	chr8:11561349-11561916	H1-hESC	embryonic stem cell:	n/a	chr8:11561366-11561382 chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
5	HNF4A	chr8:11561369-11561770	HepG2	liver:	n/a	chr8:11561546-11561560 chr8:11561546-11561558 chr8:11561546-11561554
6	JUND	chr8:11561412-11561891	HepG2	liver:	n/a	n/a
7	CTCF	chr8:11561460-11561610	BE2_C	brain:	n/a	n/a
8	USF1	chr8:11561455-11561768	A549	lung:	n/a	chr8:11561640-11561649 chr8:11561638-11561649
9	USF1	chr8:11561458-11561811	A549	lung:	n/a	chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
10	NFIC	chr8:11561375-11561788	HepG2	liver:	n/a	n/a
11	RCOR1	chr8:11561421-11561944	HepG2	liver:	n/a	n/a
12	SIN3AK20	chr8:11561441-11561885	HepG2	liver:	n/a	n/a
13	TBP	chr8:11561376-11561965	HepG2	liver:	n/a	n/a
14	MAZ	chr8:11560681-11561973	HepG2	liver:	n/a	chr8:11561641-11561657
15	POLR2A	chr8:11560830-11562323	HepG2	liver:	n/a	n/a
16	MYBL2	chr8:11561322-11561903	HepG2	liver:	n/a	n/a
17	RAD21	chr8:11561314-11561723	HepG2	liver:	n/a	chr8:11561555-11561569
18	RAD21	chr8:11561399-11561703	SK-N-SH_RA	brain:	n/a	chr8:11561555-11561569
19	POLR2A	chr8:11561303-11561961	PANC-1	pancreas:	n/a	n/a
20	REST	chr8:11561362-11561908	HepG2	liver:	n/a	chr8:11561774-11561787
21	POLR2A	chr8:11560889-11562476	HepG2	liver:	n/a	n/a
22	BHLHE40	chr8:11560552-11562124	HepG2	liver:	n/a	chr8:11561366-11561382 chr8:11561640-11561649 chr8:11561763-11561779
23	SIN3AK20	chr8:11561410-11561784	PANC-1	pancreas:	n/a	n/a
24	MAX	chr8:11561439-11561853	H1-hESC	embryonic stem cell:	n/a	chr8:11561641-11561657
25	ZNF143	chr8:11561428-11561799	H1-hESC	embryonic stem cell:	n/a	chr8:11561726-11561736
26	MXI1	chr8:11560914-11563929	SK-N-SH	brain:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
27	SMC3	chr8:11561449-11561621	HepG2	liver:	n/a	n/a
28	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr8:11561369-11561960	HepG2	liver:	n/a	n/a
30	MAX	chr8:11561471-11562245	HepG2	liver:	n/a	chr8:11561641-11561657
31	GABPA	chr8:11561319-11561962	H1-hESC	embryonic stem cell:	n/a	chr8:11561783-11561797 chr8:11561402-11561411
32	POLR2A	chr8:11561363-11561912	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:11561457-11561964	SK-N-MC	brain:	n/a	n/a
34	CEBPD	chr8:11561465-11561883	HepG2	liver:	n/a	n/a
35	USF1	chr8:11561430-11561767	SK-N-SH_RA	brain:	n/a	chr8:11561640-11561649 chr8:11561638-11561649
36	CTCF	chr8:11561467-11561593	HepG2	liver:	n/a	n/a
37	POLR2A	chr8:11561219-11562080	SK-N-MC	brain:	n/a	n/a
38	RFX5	chr8:11561444-11562050	HepG2	liver:	n/a	chr8:11561976-11561991 chr8:11561680-11561689 chr8:11561676-11561691 chr8:11561981-11561990 chr8:11561976-11561991
39	GABPA	chr8:11561374-11561933	H1-hESC	embryonic stem cell:	n/a	chr8:11561783-11561797 chr8:11561402-11561411
40	POLR2A	chr8:11561442-11561845	A549	lung:	n/a	n/a
41	USF1	chr8:11561409-11561811	HepG2	liver:	n/a	chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
42	CTCF	chr8:11561400-11561550	BE2_C	brain:	n/a	n/a
43	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
44	CTCF	chr8:11561480-11561626	Gliobla	brain:	n/a	n/a
45	CTCF	chr8:11561340-11561490	GM12864	blood:	n/a	chr8:11561391-11561404
46	USF1	chr8:11561443-11561818	SK-N-SH_RA	brain:	n/a	chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
47	USF1	chr8:11561477-11561716	A549	lung:	n/a	chr8:11561640-11561649 chr8:11561638-11561649
48	USF1	chr8:11561412-11561875	H1-hESC	embryonic stem cell:	n/a	chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
49	CTCF	chr8:11561440-11561590	HPAF	blood vessel:	n/a	n/a
50	TAF1	chr8:11561387-11561926	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11561458-11561508	AG04450	lung:	fetal
2	chr8:11561458-11561508	SAEC	small airway:	n/a
3	chr8:11561458-11561508	GM19239	blood:	n/a
4	chr8:11561458-11561508	HCPEpiC	choroid plexus:	n/a
5	chr8:11561458-11561508	A549	lung:	n/a
6	chr8:11561458-11561508	GM12878	blood:	n/a
7	chr8:11561458-11561508	K562	blood:	n/a
8	chr8:11561458-11561508	GM12892	blood:	n/a
9	chr8:11561458-11561508	HRPEpiC	eye:	n/a
10	chr8:11561458-11561508	IMR90	lung:	fetal
11	chr8:11561458-11561508	MCF10A-Er-Src	breast:	n/a
12	chr8:11561458-11561508	Caco-2	colon:	n/a
13	chr8:11561458-11561508	Jurkat	blood:	n/a
14	chr8:11561458-11561508	T-47D	breast:	n/a
15	chr8:11561458-11561508	HRCEpiC	kidney:	n/a
16	chr8:11561458-11561508	HMEC	breast:	n/a
17	chr8:11561458-11561508	AoSMC	blood vessel:	n/a
18	chr8:11561458-11561508	PFSK-1	brain:	n/a
19	chr8:11561458-11561508	HEEpiC	esophagus:	n/a
20	chr8:11561458-11561508	AG04449	skin:	fetal
21	chr8:11561458-11561508	CMK	blood:	n/a
22	chr8:11561458-11561508	ovcar-3	ovarian:	n/a
23	chr8:11561458-11561508	PrEC	prostate:	n/a
24	chr8:11561458-11561508	Hela-S3	cervix:	n/a
25	chr8:11561458-11561508	AG09319	gingival:	n/a
26	chr8:11561458-11561508	ProgFib	skin:	n/a
27	chr8:11561458-11561508	HIPEpiC	eye:	n/a
28	chr8:11561458-11561508	ECC-1	luminal epithelium:	n/a
29	chr8:11561458-11561508	SKMC	muscle:	n/a
30	chr8:11561458-11561508	AG10803	skin:	n/a
31	chr8:11561458-11561508	HUVEC	blood vessel:	n/a
32	chr8:11561458-11561508	HCF	heart:	n/a
33	chr8:11561458-11561508	HCM	heart:	n/a
34	chr8:11561458-11561508	NHBE	bronchial:	n/a
35	chr8:11561458-11561508	H1-hESC	embryonic stem cell:	embryo
36	chr8:11561458-11561508	HEK293	kidney:	embryo
37	chr8:11561458-11561508	NHDF-neo	bronchial:	n/a
38	chr8:11561458-11561508	HNPCEpiC	eye:	n/a
39	chr8:11561458-11561508	U87	brain:	n/a
40	chr8:11561458-11561508	NB4	blood:	n/a
41	chr8:11561458-11561508	Hepatocyte	liver:	n/a
42	chr8:11561458-11561508	LNCaP	prostate:	n/a
43	chr8:11561458-11561508	MCF-7	breast:	n/a
44	chr8:11561458-11561508	HPAEpiC	pulmonary alveolar:	n/a
45	chr8:11561458-11561508	NT2-D1	testis:	n/a
46	chr8:11561458-11561508	HAEpiC	amniotic membrane:	n/a
47	chr8:11561458-11561508	SK-N-MC	brain:	n/a
48	chr8:11561458-11561508	AG09309	skin:	n/a
49	chr8:11561458-11561508	BJ	skin:	n/a
50	chr8:11561458-11561508	PANC-1	pancreas:	n/a

Variant related genes	Relation type
GATA4	TF binding region
GATA4	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10088181	1.00[EUR][1000 genomes]
rs10091294	1.00[EUR][1000 genomes]
rs10094355	1.00[EUR][1000 genomes]
rs10094630	1.00[EUR][1000 genomes]
rs10096015	1.00[EUR][1000 genomes]
rs10096526	1.00[EUR][1000 genomes]
rs10097076	1.00[EUR][1000 genomes]
rs10100742	1.00[EUR][1000 genomes]
rs10101788	1.00[EUR][1000 genomes]
rs10101900	1.00[EUR][1000 genomes]
rs10102714	1.00[EUR][1000 genomes]
rs10103483	1.00[EUR][1000 genomes]
rs10105409	1.00[EUR][1000 genomes]
rs10106250	1.00[EUR][1000 genomes]
rs10108287	1.00[EUR][1000 genomes]
rs10109678	1.00[EUR][1000 genomes]
rs10109971	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10111542	1.00[EUR][1000 genomes]
rs10112464	1.00[EUR][1000 genomes]
rs10113255	1.00[EUR][1000 genomes]
rs10216815	1.00[EUR][1000 genomes]
rs11987347	1.00[AMR][1000 genomes]
rs2127130	1.00[EUR][1000 genomes]
rs2127131	1.00[EUR][1000 genomes]
rs2244775	1.00[EUR][1000 genomes]
rs2252818	1.00[EUR][1000 genomes]
rs2252906	1.00[EUR][1000 genomes]
rs2252908	1.00[EUR][1000 genomes]
rs2252914	1.00[EUR][1000 genomes]
rs2264307	1.00[EUR][1000 genomes]
rs2409812	1.00[EUR][1000 genomes]
rs28394863	1.00[EUR][1000 genomes]
rs28505660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28665608	1.00[EUR][1000 genomes]
rs4841582	1.00[EUR][1000 genomes]
rs5027656	1.00[EUR][1000 genomes]
rs55951800	1.00[EUR][1000 genomes]
rs57782848	1.00[EUR][1000 genomes]
rs58467083	1.00[EUR][1000 genomes]
rs59035560	1.00[EUR][1000 genomes]
rs60419043	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61265429	1.00[EUR][1000 genomes]
rs73533953	1.00[EUR][1000 genomes]
rs73545766	1.00[EUR][1000 genomes]
rs73545784	1.00[EUR][1000 genomes]
rs73663183	1.00[EUR][1000 genomes]
rs73663184	1.00[EUR][1000 genomes]
rs73663185	1.00[EUR][1000 genomes]
rs73663187	1.00[EUR][1000 genomes]
rs73663190	1.00[EUR][1000 genomes]
rs73663191	1.00[EUR][1000 genomes]
rs73663201	1.00[EUR][1000 genomes]
rs7831152	1.00[EUR][1000 genomes]
rs7841968	1.00[EUR][1000 genomes]
rs8191510	1.00[EUR][1000 genomes]
rs8191521	1.00[AMR][1000 genomes]
rs8191543	1.00[EUR][1000 genomes]
rs8191573	1.00[EUR][1000 genomes]
rs8191669	1.00[EUR][1000 genomes]
rs8191682	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr8:11558200-11562800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:11559000-11563000	Bivalent Enhancer	Brain Germinal Matrix	brain
4	chr8:11559200-11561600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr8:11559200-11563200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:11559400-11561800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr8:11559400-11563000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
8	chr8:11559400-11563200	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr8:11559400-11563200	Active TSS	Gastric	stomach
10	chr8:11559600-11561600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr8:11559600-11561600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:11559600-11562400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
13	chr8:11559600-11562400	Bivalent Enhancer	Fetal Brain Male	brain
14	chr8:11559600-11562800	Bivalent Enhancer	Esophagus	oesophagus
15	chr8:11559800-11561600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:11559800-11561600	Bivalent Enhancer	Spleen	Spleen
17	chr8:11559800-11561800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:11559800-11562200	Bivalent Enhancer	Fetal Lung	lung
19	chr8:11559800-11563200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr8:11560000-11561800	Bivalent Enhancer	Fetal Brain Female	brain
21	chr8:11560000-11563000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:11560000-11563400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:11560200-11561600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr8:11560200-11561600	Flanking Active TSS	Liver	Liver
25	chr8:11560200-11563000	Enhancers	Lung	lung
26	chr8:11560200-11563400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:11560400-11563000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:11560400-11563000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:11560400-11563200	Bivalent/Poised TSS	Stomach Mucosa	stomach
30	chr8:11560400-11568400	Active TSS	Right Atrium	heart
31	chr8:11560600-11561600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:11560600-11561600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
33	chr8:11560600-11562000	Bivalent Enhancer	Brain Substantia Nigra	brain
34	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
35	chr8:11560800-11561800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:11560800-11563000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:11560800-11564000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:11561000-11561600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr8:11561000-11561600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr8:11561000-11561800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:11561000-11561800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
42	chr8:11561000-11561800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr8:11561000-11562000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
44	chr8:11561000-11562400	Active TSS	Fetal Heart	heart
45	chr8:11561000-11562400	Bivalent/Poised TSS	A549	lung
46	chr8:11561000-11562600	Active TSS	Left Ventricle	heart
47	chr8:11561000-11562800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr8:11561000-11563000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr8:11561000-11563200	Bivalent/Poised TSS	HepG2	liver
50	chr8:11561200-11561600	Bivalent Enhancer	Brain Hippocampus Middle	brain

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