Variant report

Variant	rs73203482
Chromosome Location	chr8:11561818-11561819
allele	A/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	POLR2A	chr8:11561637-11561899	SK-N-SH	brain:	n/a	n/a
3	CTBP2	chr8:11559506-11563159	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr8:11561362-11561884	SK-N-SH	brain:	n/a	chr8:11561366-11561382 chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
5	USF1	chr8:11561349-11561916	H1-hESC	embryonic stem cell:	n/a	chr8:11561366-11561382 chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
6	JUND	chr8:11561412-11561891	HepG2	liver:	n/a	n/a
7	RCOR1	chr8:11561421-11561944	HepG2	liver:	n/a	n/a
8	SIN3AK20	chr8:11561441-11561885	HepG2	liver:	n/a	n/a
9	TBP	chr8:11561376-11561965	HepG2	liver:	n/a	n/a
10	MAZ	chr8:11560681-11561973	HepG2	liver:	n/a	chr8:11561641-11561657
11	POLR2A	chr8:11560830-11562323	HepG2	liver:	n/a	n/a
12	MYBL2	chr8:11561322-11561903	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:11561303-11561961	PANC-1	pancreas:	n/a	n/a
14	REST	chr8:11561362-11561908	HepG2	liver:	n/a	chr8:11561774-11561787
15	POLR2A	chr8:11560889-11562476	HepG2	liver:	n/a	n/a
16	BHLHE40	chr8:11560552-11562124	HepG2	liver:	n/a	chr8:11561366-11561382 chr8:11561640-11561649 chr8:11561763-11561779
17	NFYB	chr8:11561487-11561863	K562	blood:	n/a	n/a
18	MAX	chr8:11561439-11561853	H1-hESC	embryonic stem cell:	n/a	chr8:11561641-11561657
19	MXI1	chr8:11560914-11563929	SK-N-SH	brain:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
20	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr8:11561369-11561960	HepG2	liver:	n/a	n/a
22	MAX	chr8:11561471-11562245	HepG2	liver:	n/a	chr8:11561641-11561657
23	GABPA	chr8:11561319-11561962	H1-hESC	embryonic stem cell:	n/a	chr8:11561783-11561797 chr8:11561402-11561411
24	POLR2A	chr8:11561363-11561912	HepG2	liver:	n/a	n/a
25	POLR2A	chr8:11561457-11561964	SK-N-MC	brain:	n/a	n/a
26	CEBPD	chr8:11561465-11561883	HepG2	liver:	n/a	n/a
27	POLR2A	chr8:11561219-11562080	SK-N-MC	brain:	n/a	n/a
28	RFX5	chr8:11561444-11562050	HepG2	liver:	n/a	chr8:11561976-11561991 chr8:11561680-11561689 chr8:11561676-11561691 chr8:11561981-11561990 chr8:11561976-11561991
29	TBP	chr8:11561538-11561857	H1-hESC	embryonic stem cell:	n/a	n/a
30	GABPA	chr8:11561374-11561933	H1-hESC	embryonic stem cell:	n/a	chr8:11561783-11561797 chr8:11561402-11561411
31	POLR2A	chr8:11561442-11561845	A549	lung:	n/a	n/a
32	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
33	USF1	chr8:11561443-11561818	SK-N-SH_RA	brain:	n/a	chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
34	USF1	chr8:11561412-11561875	H1-hESC	embryonic stem cell:	n/a	chr8:11561640-11561649 chr8:11561638-11561649 chr8:11561763-11561779
35	TAF1	chr8:11561387-11561926	HepG2	liver:	n/a	n/a
36	HDAC2	chr8:11561185-11561853	HepG2	liver:	n/a	chr8:11561820-11561834 chr8:11561824-11561838 chr8:11561546-11561554
37	EP300	chr8:11561373-11562005	HepG2	liver:	n/a	chr8:11561723-11561732
38	HNF4G	chr8:11561271-11561848	HepG2	liver:	n/a	chr8:11561546-11561561 chr8:11561546-11561560 chr8:11561546-11561558 chr8:11561546-11561554
39	YY1	chr8:11561386-11561982	HepG2	liver:	n/a	chr8:11561723-11561737 chr8:11561402-11561411
40	MYBL2	chr8:11561481-11562035	HepG2	liver:	n/a	n/a
41	MAX	chr8:11560472-11562500	HepG2	liver:	n/a	chr8:11561641-11561657
42	POLR2A	chr8:11561594-11561857	HepG2	liver:	n/a	n/a
43	CHD2	chr8:11560679-11561833	HepG2	liver:	n/a	chr8:11561403-11561413 chr8:11561363-11561373
44	POLR2A	chr8:11561454-11561917	A549	lung:	n/a	n/a
45	EGR1	chr8:11561453-11561934	H1-hESC	embryonic stem cell:	n/a	chr8:11561785-11561794
46	BRCA1	chr8:11561405-11561915	HepG2	liver:	n/a	n/a
47	CEBPD	chr8:11561260-11561925	HepG2	liver:	n/a	n/a
48	HMGN3	chr8:11561608-11561854	K562	blood:	n/a	n/a
49	CREB1	chr8:11560559-11561981	HepG2	liver:	n/a	n/a
50	POLR2A	chr8:11561414-11561864	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11784821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11785555	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11786824	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2409813	0.81[EUR][1000 genomes]
rs28473684	0.82[EUR][1000 genomes]
rs34888744	0.83[EUR][1000 genomes]
rs35813172	0.83[EUR][1000 genomes]
rs4269498	0.84[EUR][1000 genomes]
rs4469416	1.00[AFR][1000 genomes]
rs57341427	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59101725	0.88[EUR][1000 genomes]
rs61277615	0.84[EUR][1000 genomes]
rs6990313	0.81[EUR][1000 genomes]
rs73203475	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73203478	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73203480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73203488	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73203490	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73203493	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73203500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73205106	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73205108	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73205114	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73205120	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73205121	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7827193	0.84[EUR][1000 genomes]
rs7840794	0.89[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:93 , 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	chr8:11559200-11563200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:11559400-11563000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
6	chr8:11559400-11563200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr8:11559400-11563200	Active TSS	Gastric	stomach
8	chr8:11559600-11562400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr8:11559600-11562400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr8:11559600-11562800	Bivalent Enhancer	Esophagus	oesophagus
11	chr8:11559800-11562200	Bivalent Enhancer	Fetal Lung	lung
12	chr8:11559800-11563200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr8:11560000-11563000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:11560000-11563400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:11560200-11563000	Enhancers	Lung	lung
16	chr8:11560200-11563400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:11560400-11563000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:11560400-11563000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:11560400-11563200	Bivalent/Poised TSS	Stomach Mucosa	stomach
20	chr8:11560400-11568400	Active TSS	Right Atrium	heart
21	chr8:11560600-11562000	Bivalent Enhancer	Brain Substantia Nigra	brain
22	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
23	chr8:11560800-11563000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:11560800-11564000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:11561000-11562000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
26	chr8:11561000-11562400	Active TSS	Fetal Heart	heart
27	chr8:11561000-11562400	Bivalent/Poised TSS	A549	lung
28	chr8:11561000-11562600	Active TSS	Left Ventricle	heart
29	chr8:11561000-11562800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:11561000-11563000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr8:11561000-11563200	Bivalent/Poised TSS	HepG2	liver
32	chr8:11561200-11562000	Bivalent Enhancer	Colon Smooth Muscle	Colon
33	chr8:11561200-11562200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:11561200-11562200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr8:11561200-11562400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr8:11561200-11562800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:11561200-11563000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:11561200-11563200	Active TSS	Pancreas	Pancrea
39	chr8:11561200-11565400	Active TSS	Ovary	ovary
40	chr8:11561400-11562000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:11561400-11562000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
42	chr8:11561400-11562000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:11561400-11562000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:11561400-11562000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
45	chr8:11561400-11562000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
46	chr8:11561400-11562000	Bivalent/Poised TSS	GM12878-XiMat	blood
47	chr8:11561400-11562200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr8:11561400-11562200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:11561400-11562200	Bivalent/Poised TSS	NHEK	skin
50	chr8:11561400-11562400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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