Variant report

Variant	rs73537869
Chromosome Location	chr8:11561028-11561029
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	CTBP2	chr8:11559506-11563159	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr8:11560681-11561973	HepG2	liver:	n/a	chr8:11561641-11561657
3	POLR2A	chr8:11560830-11562323	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:11560889-11562476	HepG2	liver:	n/a	n/a
5	BHLHE40	chr8:11560552-11562124	HepG2	liver:	n/a	chr8:11561366-11561382 chr8:11561640-11561649 chr8:11561763-11561779
6	MXI1	chr8:11560914-11563929	SK-N-SH	brain:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
7	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
8	SMC3	chr8:11560614-11561074	HepG2	liver:	n/a	n/a
9	HNF4G	chr8:11560515-11561077	HepG2	liver:	n/a	chr8:11560808-11560823 chr8:11560806-11560824 chr8:11560809-11560822 chr8:11560808-11560822 chr8:11560809-11560822
10	TCF7L2	chr8:11560654-11561091	HEK293	kidney:	n/a	n/a
11	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
12	NFIC	chr8:11560703-11561094	HepG2	liver:	n/a	n/a
13	KAP1	chr8:11560581-11561136	U2OS	brain:	n/a	n/a
14	MXI1	chr8:11560699-11561058	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:11560418-11561083	H1-neurons	neurons:	n/a	n/a
16	MAX	chr8:11560472-11562500	HepG2	liver:	n/a	chr8:11561641-11561657
17	CHD2	chr8:11560679-11561833	HepG2	liver:	n/a	chr8:11561403-11561413 chr8:11561363-11561373
18	ZNF143	chr8:11560888-11561088	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr8:11560559-11561981	HepG2	liver:	n/a	n/a
20	HNF4A	chr8:11560658-11561919	HepG2	liver:	n/a	chr8:11560808-11560823 chr8:11560806-11560824 chr8:11560809-11560822 chr8:11560808-11560822 chr8:11561546-11561560 chr8:11561546-11561558 chr8:11561546-11561554 chr8:11560809-11560822
21	YY1	chr8:11560573-11561050	HepG2	liver:	n/a	chr8:11561005-11561019
22	BRCA1	chr8:11560993-11561089	HepG2	liver:	n/a	n/a
23	CEBPB	chr8:11560664-11561224	HepG2	liver:	n/a	chr8:11561089-11561102
24	CHD2	chr8:11560691-11561046	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11994925	1.00[ASN][1000 genomes]
rs56936550	1.00[ASN][1000 genomes]
rs57208965	1.00[AMR][1000 genomes]
rs58258057	1.00[ASN][1000 genomes]
rs59035560	1.00[ASN][1000 genomes]
rs59799643	1.00[ASN][1000 genomes]
rs59946151	1.00[ASN][1000 genomes]
rs60197293	1.00[ASN][1000 genomes]
rs60893253	1.00[ASN][1000 genomes]
rs7011491	1.00[ASN][1000 genomes]
rs73203490	1.00[ASN][1000 genomes]
rs73203493	1.00[ASN][1000 genomes]
rs73547720	1.00[ASN][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11557800-11561400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr8:11558200-11562800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:11559000-11561400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:11559000-11561400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:11559000-11563000	Bivalent Enhancer	Brain Germinal Matrix	brain
7	chr8:11559200-11561600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr8:11559200-11563200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr8:11559400-11561400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr8:11559400-11561400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:11559400-11561400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
12	chr8:11559400-11561800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr8:11559400-11563000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr8:11559400-11563200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr8:11559400-11563200	Active TSS	Gastric	stomach
16	chr8:11559600-11561400	Bivalent Enhancer	Brain Anterior Caudate	brain
17	chr8:11559600-11561400	Bivalent Enhancer	Colonic Mucosa	Colon
18	chr8:11559600-11561600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
19	chr8:11559600-11561600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:11559600-11562400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
21	chr8:11559600-11562400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr8:11559600-11562800	Bivalent Enhancer	Esophagus	oesophagus
23	chr8:11559800-11561200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
24	chr8:11559800-11561600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:11559800-11561600	Bivalent Enhancer	Spleen	Spleen
26	chr8:11559800-11561800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:11559800-11562200	Bivalent Enhancer	Fetal Lung	lung
28	chr8:11559800-11563200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr8:11560000-11561400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:11560000-11561400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:11560000-11561400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
32	chr8:11560000-11561800	Bivalent Enhancer	Fetal Brain Female	brain
33	chr8:11560000-11563000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:11560000-11563400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:11560200-11561200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:11560200-11561200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr8:11560200-11561400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
38	chr8:11560200-11561400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr8:11560200-11561600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr8:11560200-11561600	Flanking Active TSS	Liver	Liver
41	chr8:11560200-11563000	Enhancers	Lung	lung
42	chr8:11560200-11563400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr8:11560400-11561400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:11560400-11561400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:11560400-11561400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
46	chr8:11560400-11561400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:11560400-11563000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:11560400-11563000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:11560400-11563200	Bivalent/Poised TSS	Stomach Mucosa	stomach
50	chr8:11560400-11568400	Active TSS	Right Atrium	heart

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