Variant report

Variant	rs370774204
Chromosome Location	chr4:8200762-8200763
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	POLR2A	chr4:8200727-8201273	GM12891	blood:	n/a	n/a
2	PAX5	chr4:8200504-8201246	GM12892	blood:	n/a	n/a
3	POU2F2	chr4:8200357-8201175	GM12891	blood:	n/a	chr4:8201147-8201159
4	ELF1	chr4:8200637-8201115	MCF-7	breast:	n/a	chr4:8200966-8200978
5	POLR2A	chr4:8200632-8202730	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:8200369-8205269	GM12878	blood:	n/a	n/a
7	JUND	chr4:8200762-8201053	HepG2	liver:	n/a	n/a
8	RCOR1	chr4:8200424-8201183	HepG2	liver:	n/a	n/a
9	YY1	chr4:8200610-8201161	GM12878	blood:	n/a	chr4:8200959-8200973 chr4:8201147-8201158 chr4:8200813-8200824
10	PML	chr4:8200343-8201394	GM12878	blood:	n/a	n/a
11	RELA	chr4:8200113-8201230	GM19099	blood:	n/a	n/a
12	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
13	TAF1	chr4:8200682-8201188	PFSK-1	brain:	n/a	n/a
14	BCLAF1	chr4:8200397-8201149	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
15	MXI1	chr4:8200576-8201975	HepG2	liver:	n/a	n/a
16	TBP	chr4:8200453-8201215	GM12878	blood:	n/a	n/a
17	BCLAF1	chr4:8200346-8201218	GM12878	blood:	n/a	chr4:8200963-8200972 chr4:8200816-8200829 chr4:8200751-8200760
18	PAX5	chr4:8200459-8200809	GM12891	blood:	n/a	n/a
19	BHLHE40	chr4:8200385-8201166	HepG2	liver:	n/a	chr4:8200519-8200540
20	FOXM1	chr4:8200537-8201311	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:8200634-8201946	HUVEC	blood vessel:	n/a	n/a
22	SPI1	chr4:8200556-8201070	HL-60	blood:	n/a	n/a
23	CREB1	chr4:8200683-8201110	A549	lung:	n/a	n/a
24	STAT3	chr4:8200493-8200910	MCF10A-Er-Src	breast:	n/a	n/a
25	SPI1	chr4:8200513-8201149	GM12891	blood:	n/a	n/a
26	EP300	chr4:8200634-8201357	HepG2	liver:	n/a	chr4:8200694-8200708 chr4:8200924-8200940 chr4:8201319-8201335
27	POLR2A	chr4:8200443-8205116	GM18505	blood:	n/a	n/a
28	POLR2A	chr4:8200655-8201289	GM12892	blood:	n/a	n/a
29	SPI1	chr4:8200439-8201372	GM12878	blood:	n/a	n/a
30	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
31	NRF1	chr4:8200640-8201236	GM12878	blood:	n/a	chr4:8201150-8201159
32	EBF1	chr4:8200288-8201316	GM12878	blood:	n/a	n/a
33	YY1	chr4:8200527-8201202	GM12892	blood:	n/a	chr4:8200959-8200973 chr4:8201147-8201158 chr4:8200813-8200824
34	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
35	POLR2A	chr4:8200122-8204378	GM18526	blood:	n/a	n/a
36	ZEB1	chr4:8200448-8201183	GM12878	blood:	n/a	n/a
37	JUND	chr4:8200733-8201119	K562	blood:	n/a	n/a
38	POLR2A	chr4:8200506-8204225	GM19193	blood:	n/a	n/a
39	MYC	chr4:8200669-8201175	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr4:8200711-8201173	ProgFib	skin:	n/a	n/a
41	TCF12	chr4:8200531-8201367	A549	lung:	n/a	n/a
42	POLR2A	chr4:8200695-8203509	HUVEC	blood vessel:	n/a	n/a
43	REST	chr4:8200518-8201171	SK-N-SH	brain:	n/a	chr4:8200835-8200844 chr4:8200828-8200841
44	POLR2A	chr4:8200565-8203402	PFSK-1	brain:	n/a	n/a
45	POU2F2	chr4:8200274-8201319	GM12878	blood:	n/a	chr4:8201147-8201159
46	SPI1	chr4:8200593-8201043	GM12878	blood:	n/a	n/a
47	MAX	chr4:8200160-8201264	NB4	blood:	n/a	n/a
48	TAF1	chr4:8200515-8201212	HepG2	liver:	n/a	n/a
49	TEAD4	chr4:8200685-8201104	K562	blood:	n/a	n/a
50	CHD2	chr4:8200624-8200949	HepG2	liver:	n/a	n/a

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:111 , 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	chr4:8194200-8201000	Weak transcription	Psoas Muscle	Psoas
4	chr4:8195400-8200800	Enhancers	Fetal Muscle Leg	muscle
5	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:8198800-8201400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:8199000-8200800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:8199400-8201000	Enhancers	Stomach Mucosa	stomach
9	chr4:8199600-8201000	Enhancers	Gastric	stomach
10	chr4:8199600-8201000	Enhancers	Lung	lung
11	chr4:8199600-8201000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr4:8200000-8200800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:8200000-8200800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:8200000-8200800	Flanking Active TSS	HepG2	liver
15	chr4:8200000-8201000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:8200000-8201000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:8200000-8201000	Enhancers	Fetal Intestine Large	intestine
18	chr4:8200000-8201000	Enhancers	Fetal Muscle Trunk	muscle
19	chr4:8200000-8201000	Enhancers	Right Ventricle	heart
20	chr4:8200000-8202000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:8200000-8202200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:8200000-8203200	Enhancers	Fetal Heart	heart
23	chr4:8200000-8204000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr4:8200000-8206000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:8200200-8200800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:8200200-8200800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr4:8200200-8200800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr4:8200200-8200800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr4:8200200-8200800	Enhancers	Fetal Stomach	stomach
30	chr4:8200200-8200800	Flanking Active TSS	Thymus	Thymus
31	chr4:8200200-8200800	Flanking Active TSS	A549	lung
32	chr4:8200200-8200800	Flanking Active TSS	NHEK	skin
33	chr4:8200200-8201000	Enhancers	Brain Hippocampus Middle	brain
34	chr4:8200200-8201000	Enhancers	Left Ventricle	heart
35	chr4:8200200-8201000	Enhancers	Right Atrium	heart
36	chr4:8200200-8201000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:8200200-8201000	Flanking Active TSS	HMEC	breast
38	chr4:8200200-8202200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr4:8200200-8203200	Flanking Active TSS	Colonic Mucosa	Colon
40	chr4:8200200-8203800	Active TSS	Rectal Smooth Muscle	rectum
41	chr4:8200200-8204000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:8200200-8204000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr4:8200200-8204800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr4:8200200-8205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:8200400-8200800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:8200400-8200800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr4:8200400-8200800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr4:8200400-8200800	Flanking Active TSS	Liver	Liver
49	chr4:8200400-8200800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr4:8200400-8200800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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