Variant report

Variant	rs532259043
Chromosome Location	chr3:52091864-52091865
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	HEY1	chr3:52091481-52091885	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:52090932-52091951	U87	brain:	n/a	n/a
3	MAZ	chr3:52088560-52092528	IMR90	lung:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
4	POLR2A	chr3:52090426-52091951	H1-neurons	neurons:	n/a	n/a
5	REST	chr3:52089552-52092345	H1-neurons	neurons:	n/a	chr3:52091575-52091588 chr3:52091918-52091931 chr3:52091489-52091502
6	POLR2A	chr3:52090938-52091899	U87	brain:	n/a	n/a
7	MAZ	chr3:52090460-52091867	GM12878	blood:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
8	NRF1	chr3:52090395-52092278	SK-N-SH	brain:	n/a	chr3:52091535-52091544 chr3:52090837-52090851 chr3:52091546-52091555 chr3:52091643-52091657 chr3:52091575-52091584
9	BACH1	chr3:52090669-52092031	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr3:52090445-52091921	HCT-116	colon:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
11	HCFC1	chr3:52090458-52092025	Hela-S3	cervix:	n/a	n/a
12	MAX	chr3:52089605-52091926	ECC-1	luminal epithelium:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
13	MAX	chr3:52090508-52091948	HepG2	liver:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
14	CTCF	chr3:52091800-52091950	HCFaa	heart:	n/a	n/a
15	POLR2A	chr3:52091308-52092071	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr3:52089267-52091929	A549	lung:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
17	POLR2A	chr3:52089093-52091883	Hela-S3	cervix:	n/a	n/a
18	ZNF143	chr3:52090883-52092053	H1-hESC	embryonic stem cell:	n/a	chr3:52091575-52091593 chr3:52091545-52091555
19	MAX	chr3:52089607-52091992	HepG2	liver:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
20	MAX	chr3:52090509-52091890	ECC-1	luminal epithelium:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
21	RAD21	chr3:52086734-52092011	SK-N-SH	brain:	n/a	chr3:52088903-52088910 chr3:52088972-52088986 chr3:52090764-52090774 chr3:52091686-52091700 chr3:52089352-52089366
22	POLR2A	chr3:52091468-52091886	GM12892	blood:	n/a	n/a
23	POLR2A	chr3:52091488-52092039	HepG2	liver:	n/a	n/a
24	STAT5A	chr3:52091536-52091979	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:52090484-52091868	GM12878	blood:	n/a	n/a
26	TAF1	chr3:52091486-52091905	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr3:52091019-52092000	H1-neurons	neurons:	n/a	n/a
28	USF1	chr3:52090537-52091988	HCT-116	colon:	n/a	chr3:52091498-52091514 chr3:52091335-52091346 chr3:52090590-52090606
29	ZEB1	chr3:52090973-52092014	GM12878	blood:	n/a	n/a
30	TAF1	chr3:52091384-52092090	ECC-1	luminal epithelium:	n/a	n/a
31	E2F6	chr3:52090674-52092146	H1-hESC	embryonic stem cell:	n/a	chr3:52091635-52091645 chr3:52091822-52091831 chr3:52091442-52091452 chr3:52091638-52091647 chr3:52091523-52091535 chr3:52091495-52091504
32	POLR2A	chr3:52090471-52091971	SK-N-MC	brain:	n/a	n/a
33	CTCF	chr3:52091860-52092010	HepG2	liver:	n/a	n/a
34	POLR2A	chr3:52090384-52091964	H1-neurons	neurons:	n/a	n/a
35	MTA3	chr3:52091447-52092231	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:52090919-52091878	HCT-116	colon:	n/a	n/a
37	MXI1	chr3:52090491-52091985	SK-N-SH	brain:	n/a	chr3:52091337-52091346
38	CTCF	chr3:52091740-52091890	GM12868	blood:	n/a	n/a
39	YY1	chr3:52091007-52091872	HepG2	liver:	n/a	chr3:52091822-52091833 chr3:52091575-52091589 chr3:52091498-52091512 chr3:52091581-52091592
40	TCF7L2	chr3:52091167-52091959	Hela-S3	cervix:	n/a	chr3:52091909-52091918
41	SIN3A	chr3:52090587-52091945	H1-hESC	embryonic stem cell:	n/a	chr3:52091337-52091346
42	CREB1	chr3:52090713-52091930	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr3:52091419-52092068	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr3:52090984-52091939	HUVEC	blood vessel:	n/a	n/a
45	MAX	chr3:52090536-52091881	MCF-7	breast:	n/a	chr3:52091334-52091347 chr3:52091339-52091347 chr3:52091535-52091545 chr3:52091336-52091345 chr3:52091336-52091345 chr3:52091331-52091350 chr3:52091335-52091346
46	RCOR1	chr3:52089763-52091923	IMR90	lung:	n/a	n/a
47	TAF1	chr3:52090710-52091891	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52091829-52091879	AoSMC	blood vessel:	n/a
2	chr3:52091829-52091879	HAEpiC	amniotic membrane:	n/a
3	chr3:52091829-52091879	HMEC	breast:	n/a
4	chr3:52091829-52091879	AG04449	skin:	fetal
5	chr3:52091829-52091879	HCM	heart:	n/a
6	chr3:52091829-52091879	HCT-116	colon:	n/a
7	chr3:52091829-52091879	MCF10A-Er-Src	breast:	n/a
8	chr3:52091829-52091879	PrEC	prostate:	n/a
9	chr3:52091829-52091879	HL-60	blood:	n/a
10	chr3:52091829-52091879	SKMC	muscle:	n/a
11	chr3:52091829-52091879	LNCaP	prostate:	n/a
12	chr3:52091829-52091879	GM19239	blood:	n/a
13	chr3:52091829-52091879	AG04450	lung:	fetal
14	chr3:52091829-52091879	U87	brain:	n/a
15	chr3:52091829-52091879	BJ	skin:	n/a
16	chr3:52091829-52091879	AG09319	gingival:	n/a
17	chr3:52091829-52091879	Jurkat	blood:	n/a
18	chr3:52091829-52091879	RPTEC	kidney:	n/a
19	chr3:52091829-52091879	HCPEpiC	choroid plexus:	n/a
20	chr3:52091829-52091879	Hela-S3	cervix:	n/a
21	chr3:52091829-52091879	GM06990	blood:	n/a
22	chr3:52091829-52091879	NT2-D1	testis:	n/a
23	chr3:52091829-52091879	HCF	heart:	n/a
24	chr3:52091829-52091879	NH-A	brain:	n/a
25	chr3:52091829-52091879	ECC-1	luminal epithelium:	n/a
26	chr3:52091829-52091879	A549	lung:	n/a
27	chr3:52091829-52091879	AG10803	skin:	n/a
28	chr3:52091829-52091879	SK-N-MC	brain:	n/a
29	chr3:52091829-52091879	IMR90	lung:	fetal
30	chr3:52091829-52091879	HNPCEpiC	eye:	n/a
31	chr3:52091829-52091879	H1-hESC	embryonic stem cell:	embryo
32	chr3:52091829-52091879	HIPEpiC	eye:	n/a
33	chr3:52091829-52091879	HRCEpiC	kidney:	n/a
34	chr3:52091829-52091879	PFSK-1	brain:	n/a
35	chr3:52091829-52091879	SK-N-SH_RA	brain:	n/a
36	chr3:52091829-52091879	CMK	blood:	n/a
37	chr3:52091829-52091879	NHBE	bronchial:	n/a
38	chr3:52091829-52091879	AG09309	skin:	n/a
39	chr3:52091829-52091879	GM12891	blood:	n/a
40	chr3:52091829-52091879	GM12892	blood:	n/a
41	chr3:52091829-52091879	HEEpiC	esophagus:	n/a
42	chr3:52091829-52091879	GM12878	blood:	n/a
43	chr3:52091829-52091879	BE2_C	brain:	n/a
44	chr3:52091829-52091879	HRE	kidney:	n/a
45	chr3:52091829-52091879	PANC-1	pancreas:	n/a
46	chr3:52091829-52091879	Caco-2	colon:	n/a
47	chr3:52091829-52091879	NB4	blood:	n/a
48	chr3:52091829-52091879	HPAEpiC	pulmonary alveolar:	n/a
49	chr3:52091829-52091879	K562	blood:	n/a
50	chr3:52091829-52091879	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52028061..52031321-chr3:52088873..52092735,5	MCF-7	breast:
2	chr3:52091359..52093112-chr3:52104568..52106950,2	K562	blood:
3	chr3:52088485..52093169-chr3:52093699..52100396,11	MCF-7	breast:
4	chr3:52015921..52019600-chr3:52088214..52092499,4	K562	blood:

Variant related genes	Relation type
DUSP7	TF binding region
DUSP7	CpG island
ENSG00000243989	Chromatin interaction
ENSG00000256097	Chromatin interaction
ENSG00000114779	Chromatin interaction
ENSG00000162244	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
9	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	esv1797189	chr3:52070955-52101799	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv1798365	chr3:52070955-52101799	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
13	nsv590282	chr3:52088204-52097060	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv1836489	chr3:52089837-52101799	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv1838771	chr3:52089837-52101799	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv590293	chr3:52089889-52097060	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv590299	chr3:52090344-52096432	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv590300	chr3:52090597-52096432	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52088600-52092000	Active TSS	Fetal Kidney	kidney
2	chr3:52088600-52092000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr3:52089000-52092000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:52089000-52092000	Active TSS	A549	lung
5	chr3:52090600-52092000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:52090600-52092000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr3:52090600-52092200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:52090600-52092200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr3:52090800-52092000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr3:52090800-52092000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:52090800-52092000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr3:52090800-52092000	Flanking Active TSS	Dnd41	blood
13	chr3:52090800-52092200	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr3:52091200-52092000	Active TSS	Right Atrium	heart
15	chr3:52091200-52092400	Enhancers	Fetal Heart	heart
16	chr3:52091200-52092600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:52091200-52092800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:52091400-52092400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:52091400-52092400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:52091400-52092600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:52091600-52092000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr3:52091600-52092000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:52091600-52092000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:52091600-52092000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:52091600-52092000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:52091600-52092000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:52091600-52092000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr3:52091600-52092000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr3:52091600-52092000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr3:52091600-52092000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr3:52091600-52092000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr3:52091600-52092000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr3:52091600-52092000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr3:52091600-52092000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr3:52091600-52092000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr3:52091600-52092000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:52091600-52092000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr3:52091600-52092000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr3:52091600-52092000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:52091600-52092000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr3:52091600-52092000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:52091600-52092000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr3:52091600-52092000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr3:52091600-52092000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:52091600-52092000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:52091600-52092000	Flanking Active TSS	Liver	Liver
47	chr3:52091600-52092000	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr3:52091600-52092000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr3:52091600-52092000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr3:52091600-52092000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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