Variant report

Variant	rs566451167
Chromosome Location	chr4:8200540-8200541
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	PAX5	chr4:8200504-8201246	GM12892	blood:	n/a	n/a
2	POU2F2	chr4:8200357-8201175	GM12891	blood:	n/a	chr4:8201147-8201159
3	POLR2A	chr4:8200369-8205269	GM12878	blood:	n/a	n/a
4	RCOR1	chr4:8200424-8201183	HepG2	liver:	n/a	n/a
5	PML	chr4:8200343-8201394	GM12878	blood:	n/a	n/a
6	RELA	chr4:8200113-8201230	GM19099	blood:	n/a	n/a
7	SP1	chr4:8200432-8201349	HCT-116	colon:	n/a	chr4:8200958-8200972 chr4:8201246-8201260 chr4:8200961-8200973 chr4:8200962-8200971 chr4:8200808-8200822 chr4:8200951-8200965 chr4:8200434-8200448 chr4:8200961-8200973
8	BCLAF1	chr4:8200397-8201149	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
9	TBP	chr4:8200453-8201215	GM12878	blood:	n/a	n/a
10	BCLAF1	chr4:8200346-8201218	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
11	PAX5	chr4:8200459-8200809	GM12891	blood:	n/a	n/a
12	BHLHE40	chr4:8200385-8201166	HepG2	liver:	n/a	chr4:8200519-8200540
13	FOXM1	chr4:8200537-8201311	GM12878	blood:	n/a	n/a
14	STAT3	chr4:8200493-8200910	MCF10A-Er-Src	breast:	n/a	n/a
15	SPI1	chr4:8200513-8201149	GM12891	blood:	n/a	n/a
16	POLR2A	chr4:8200443-8205116	GM18505	blood:	n/a	n/a
17	SPI1	chr4:8200439-8201372	GM12878	blood:	n/a	n/a
18	MYC	chr4:8200069-8201069	MCF10A-Er-Src	breast:	n/a	chr4:8200151-8200166 chr4:8200155-8200165 chr4:8200154-8200165 chr4:8200155-8200165 chr4:8200154-8200165 chr4:8200155-8200164
19	EBF1	chr4:8200288-8201316	GM12878	blood:	n/a	n/a
20	YY1	chr4:8200527-8201202	GM12892	blood:	n/a	chr4:8200959-8200973 chr4:8201147-8201158 chr4:8200813-8200824
21	SP1	chr4:8200459-8201141	GM12878	blood:	n/a	chr4:8200958-8200972 chr4:8200961-8200973 chr4:8200962-8200971 chr4:8200808-8200822 chr4:8200951-8200965 chr4:8200961-8200973
22	POLR2A	chr4:8200122-8204378	GM18526	blood:	n/a	n/a
23	ZEB1	chr4:8200448-8201183	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:8200506-8204225	GM19193	blood:	n/a	n/a
25	TCF12	chr4:8200531-8201367	A549	lung:	n/a	n/a
26	REST	chr4:8200518-8201171	SK-N-SH	brain:	n/a	chr4:8200835-8200844 chr4:8200828-8200841
27	POU2F2	chr4:8200369-8200755	GM12878	blood:	n/a	n/a
28	POU2F2	chr4:8200274-8201319	GM12878	blood:	n/a	chr4:8201147-8201159
29	MAX	chr4:8200160-8201264	NB4	blood:	n/a	n/a
30	TAF1	chr4:8200515-8201212	HepG2	liver:	n/a	n/a
31	RUNX3	chr4:8200241-8201192	GM12878	blood:	n/a	n/a
32	STAT5A	chr4:8200450-8200828	GM12878	blood:	n/a	n/a
33	PAX5	chr4:8200313-8201238	GM12878	blood:	n/a	n/a
34	POLR2A	chr4:8200354-8202631	Raji	blood:	n/a	n/a
35	YY1	chr4:8200522-8201153	GM12878	blood:	n/a	chr4:8200959-8200973 chr4:8200813-8200824
36	EBF1	chr4:8200462-8201064	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:8200465-8201209	GM12878	blood:	n/a	n/a
38	PAX5	chr4:8200402-8201168	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:8200518-8201435	GM12878	blood:	n/a	n/a
40	NFIC	chr4:8200418-8201233	GM12878	blood:	n/a	n/a
41	RUNX3	chr4:8200204-8201504	GM12878	blood:	n/a	n/a
42	RELA	chr4:8200460-8201211	GM19193	blood:	n/a	n/a
43	SP1	chr4:8200530-8201080	GM12878	blood:	n/a	chr4:8200958-8200972 chr4:8200961-8200973 chr4:8200962-8200971 chr4:8200808-8200822 chr4:8200951-8200965 chr4:8200961-8200973
44	NFIC	chr4:8200519-8201172	GM12878	blood:	n/a	n/a
45	MXI1	chr4:8200467-8201535	GM12878	blood:	n/a	n/a
46	POU2F2	chr4:8200330-8201115	GM12891	blood:	n/a	n/a
47	POLR2A	chr4:8200430-8203861	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr4:8200293-8201283	HL-60	blood:	n/a	n/a
49	TAF1	chr4:8200502-8201165	GM12878	blood:	n/a	n/a
50	EP300	chr4:8200480-8201436	GM12878	blood:	n/a	chr4:8200694-8200708 chr4:8200924-8200940 chr4:8201319-8201335

No.	Distal block	Cell Line	Cell type
1	chr4:8199393..8202510-chr4:8203198..8206188,4	MCF-7	breast:
2	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
3	chr2:74258378..74259054-chr4:8199921..8200797,2	MCF-7	breast:
4	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
13	nsv869928	chr4:8195069-8214848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	esv1831794	chr4:8199833-8233341	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8191800-8200800	Enhancers	Placenta	Placenta
3	chr4:8192400-8200600	Weak transcription	Brain Substantia Nigra	brain
4	chr4:8193000-8200600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:8193600-8200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:8194200-8201000	Weak transcription	Psoas Muscle	Psoas
7	chr4:8195400-8200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:8195400-8200800	Enhancers	Fetal Muscle Leg	muscle
9	chr4:8195600-8200600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:8195600-8200600	Enhancers	Esophagus	oesophagus
11	chr4:8195800-8200600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:8196000-8200600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:8196600-8200600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr4:8198800-8201400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:8199000-8200600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:8199000-8200800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:8199200-8200600	Enhancers	Pancreas	Pancrea
19	chr4:8199200-8200600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:8199200-8200600	Enhancers	Spleen	Spleen
21	chr4:8199400-8200600	Enhancers	Fetal Intestine Small	intestine
22	chr4:8199400-8201000	Enhancers	Stomach Mucosa	stomach
23	chr4:8199600-8200600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:8199600-8200600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:8199600-8200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:8199600-8200600	Enhancers	HUVEC	blood vessel
27	chr4:8199600-8201000	Enhancers	Gastric	stomach
28	chr4:8199600-8201000	Enhancers	Lung	lung
29	chr4:8199600-8201000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr4:8199800-8200600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:8199800-8200600	Enhancers	Fetal Kidney	kidney
32	chr4:8200000-8200600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:8200000-8200600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:8200000-8200600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:8200000-8200600	Enhancers	Dnd41	blood
36	chr4:8200000-8200600	Enhancers	Hela-S3	cervix
37	chr4:8200000-8200800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:8200000-8200800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:8200000-8200800	Flanking Active TSS	HepG2	liver
40	chr4:8200000-8201000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:8200000-8201000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:8200000-8201000	Enhancers	Fetal Intestine Large	intestine
43	chr4:8200000-8201000	Enhancers	Fetal Muscle Trunk	muscle
44	chr4:8200000-8201000	Enhancers	Right Ventricle	heart
45	chr4:8200000-8202000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:8200000-8202200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr4:8200000-8203200	Enhancers	Fetal Heart	heart
48	chr4:8200000-8204000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr4:8200000-8206000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:8200200-8200600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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