Variant report

Variant	rs62489318
Chromosome Location	chr8:11562217-11562218
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	CTBP2	chr8:11559506-11563159	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF2	chr8:11562117-11562246	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:11560830-11562323	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:11560889-11562476	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:11562183-11562242	Gliobla	brain:	n/a	n/a
7	CTCF	chr8:11562180-11562330	HepG2	liver:	n/a	n/a
8	MXI1	chr8:11560914-11563929	SK-N-SH	brain:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
9	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr8:11561471-11562245	HepG2	liver:	n/a	chr8:11561641-11561657
11	FOXA1	chr8:11561967-11562294	HepG2	liver:	n/a	n/a
12	TAF1	chr8:11562047-11562646	HepG2	liver:	n/a	n/a
13	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
14	YY1	chr8:11561987-11562481	H1-hESC	embryonic stem cell:	n/a	chr8:11562383-11562394
15	FOXA2	chr8:11561936-11562241	HepG2	liver:	n/a	n/a
16	MAX	chr8:11560472-11562500	HepG2	liver:	n/a	chr8:11561641-11561657
17	FOXA1	chr8:11561865-11562307	HepG2	liver:	n/a	n/a
18	CTCF	chr8:11562180-11562330	GM12871	blood:	n/a	n/a
19	CTCF	chr8:11562120-11562270	SK-N-SH_RA	brain:	n/a	n/a
20	YY1	chr8:11562034-11562509	HepG2	liver:	n/a	chr8:11562383-11562394
21	KAP1	chr8:11561449-11562244	HEK293	kidney:	n/a	n/a
22	ZNF263	chr8:11561630-11563259	HEK293-T-REx	kidney:	n/a	chr8:11562824-11562833
23	RFX5	chr8:11561247-11562677	SK-N-SH	brain:	n/a	chr8:11561976-11561991 chr8:11561680-11561689 chr8:11561676-11561691 chr8:11561981-11561990 chr8:11561976-11561991
24	FOXA2	chr8:11561978-11562360	A549	lung:	n/a	n/a
25	RAD21	chr8:11561233-11562462	SK-N-SH	brain:	n/a	chr8:11561555-11561569

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56745056	1.00[EUR][1000 genomes]
rs62489315	1.00[EUR][1000 genomes]
rs62489316	1.00[EUR][1000 genomes]
rs62489320	1.00[EUR][1000 genomes]
rs62489321	1.00[EUR][1000 genomes]
rs62489323	1.00[EUR][1000 genomes]
rs62489324	1.00[EUR][1000 genomes]
rs62489340	1.00[EUR][1000 genomes]
rs62489341	1.00[EUR][1000 genomes]
rs62489342	1.00[EUR][1000 genomes]
rs62489346	1.00[EUR][1000 genomes]
rs62489347	1.00[EUR][1000 genomes]
rs62489350	1.00[EUR][1000 genomes]
rs62489351	1.00[EUR][1000 genomes]
rs7832153	1.00[EUR][1000 genomes]
rs7844208	1.00[EUR][1000 genomes]
rs7845076	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:80 , 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	chr8:11559800-11563200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr8:11560000-11563000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:11560000-11563400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:11560200-11563000	Enhancers	Lung	lung
15	chr8:11560200-11563400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:11560400-11563000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:11560400-11563000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:11560400-11563200	Bivalent/Poised TSS	Stomach Mucosa	stomach
19	chr8:11560400-11568400	Active TSS	Right Atrium	heart
20	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
21	chr8:11560800-11563000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:11560800-11564000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:11561000-11562400	Active TSS	Fetal Heart	heart
24	chr8:11561000-11562400	Bivalent/Poised TSS	A549	lung
25	chr8:11561000-11562600	Active TSS	Left Ventricle	heart
26	chr8:11561000-11562800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:11561000-11563000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr8:11561000-11563200	Bivalent/Poised TSS	HepG2	liver
29	chr8:11561200-11562400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr8:11561200-11562800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:11561200-11563000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr8:11561200-11563200	Active TSS	Pancreas	Pancrea
33	chr8:11561200-11565400	Active TSS	Ovary	ovary
34	chr8:11561400-11562400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr8:11561400-11562400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:11561400-11562400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr8:11561400-11563400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:11561400-11563800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr8:11561400-11565800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr8:11561600-11562400	Bivalent/Poised TSS	Placenta	Placenta
41	chr8:11561600-11563000	Active TSS	Liver	Liver
42	chr8:11561600-11563200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
43	chr8:11561600-11563200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:11561800-11562400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
45	chr8:11561800-11562400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
46	chr8:11561800-11562400	Bivalent Enhancer	Psoas Muscle	Psoas
47	chr8:11561800-11562400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr8:11561800-11562800	Bivalent Enhancer	Colonic Mucosa	Colon
49	chr8:11561800-11562800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr8:11561800-11563000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood

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