Variant report

Variant	rs547983273
Chromosome Location	chr8:11565253-11565254
allele	G/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	RAD21	chr8:11564983-11565854	SK-N-SH	brain:	n/a	chr8:11565471-11565490 chr8:11565475-11565489
2	GABPA	chr8:11565207-11565613	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:11565215-11565451	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr8:11564595-11567926	NT2-D1	testis:	n/a	n/a
5	SUZ12	chr8:11565166-11567868	H1-hESC	embryonic stem cell:	n/a	n/a
6	SMC3	chr8:11565157-11565871	SK-N-SH	brain:	n/a	n/a
7	CTBP2	chr8:11565182-11567986	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv6079	chr8:11564157-11573046	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
3	chr8:11561200-11565400	Active TSS	Ovary	ovary
4	chr8:11561400-11565800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr8:11561800-11565400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
6	chr8:11562800-11567400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:11563200-11565800	Bivalent/Poised TSS	Fetal Stomach	stomach
8	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:11563600-11565800	Active TSS	Fetal Heart	heart
10	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
11	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
12	chr8:11564400-11565400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:11564800-11565400	Enhancers	HepG2	liver
14	chr8:11564800-11565800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr8:11564800-11567000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr8:11564800-11567200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:11565000-11565400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:11565000-11565400	Active TSS	Gastric	stomach
19	chr8:11565000-11565600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:11565000-11565800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr8:11565000-11566000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr8:11565000-11566000	Enhancers	Liver	Liver
23	chr8:11565000-11568200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:11565200-11565400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr8:11565200-11565400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr8:11565200-11565400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr8:11565200-11565600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr8:11565200-11565600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:11565200-11565600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr8:11565200-11565800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:11565200-11565800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr8:11565200-11565800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr8:11565200-11565800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
34	chr8:11565200-11566000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr8:11565200-11566000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
36	chr8:11565200-11566000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:11565200-11566000	Bivalent Enhancer	Lung	lung
38	chr8:11565200-11566000	Bivalent/Poised TSS	Stomach Mucosa	stomach
39	chr8:11565200-11566200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:11565200-11566200	Bivalent Enhancer	Spleen	Spleen

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