Variant report

Variant	rs559901511
Chromosome Location	chr1:211753335-211753336
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	TEAD4	chr1:211752844-211753527	K562	blood:	n/a	n/a
2	CREB1	chr1:211750869-211753695	K562	blood:	n/a	n/a
3	TBL1XR1	chr1:211752351-211753694	K562	blood:	n/a	n/a
4	MYC	chr1:211751086-211753337	K562	blood:	n/a	chr1:211752598-211752608 chr1:211752767-211752776
5	CBX3	chr1:211752888-211753516	K562	blood:	n/a	n/a
6	FOXA1	chr1:211752350-211753620	HepG2	liver:	n/a	n/a
7	RFX5	chr1:211752199-211753647	Hela-S3	cervix:	n/a	chr1:211753502-211753516 chr1:211753505-211753514
8	CHD2	chr1:211752248-211753347	GM12878	blood:	n/a	n/a
9	CCNT2	chr1:211750901-211753387	K562	blood:	n/a	chr1:211752711-211752720 chr1:211753013-211753022 chr1:211752738-211752747 chr1:211752838-211752847
10	MYC	chr1:211752431-211753391	MCF10A-Er-Src	breast:	n/a	chr1:211752598-211752608 chr1:211752767-211752776
11	CEBPD	chr1:211752810-211753593	K562	blood:	n/a	n/a
12	EGR1	chr1:211752346-211753335	K562	blood:	n/a	chr1:211752501-211752514 chr1:211752707-211752721 chr1:211752599-211752609 chr1:211752504-211752514 chr1:211752706-211752719 chr1:211753007-211753017 chr1:211752598-211752608 chr1:211753008-211753021 chr1:211752916-211752926
13	POLR2A	chr1:211752845-211753385	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:211750925-211753337	GM18951	blood:	n/a	n/a
15	POLR2A	chr1:211750947-211753429	GM19099	blood:	n/a	n/a
16	TBP	chr1:211750947-211753397	K562	blood:	n/a	n/a
17	TAL1	chr1:211753019-211753527	K562	blood:	n/a	n/a
18	CREB1	chr1:211752219-211753379	GM12878	blood:	n/a	n/a
19	CREB1	chr1:211750880-211753427	K562	blood:	n/a	n/a
20	TBL1XR1	chr1:211752198-211753345	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:211753248-211753384	HepG2	liver:	n/a	n/a
22	GATA2	chr1:211753005-211753596	K562	blood:	n/a	n/a
23	TCF7L2	chr1:211752760-211753530	HEK293	kidney:	n/a	chr1:211752944-211752953 chr1:211752945-211752955 chr1:211752942-211752956
24	EP300	chr1:211752418-211753410	HepG2	liver:	n/a	chr1:211753030-211753046 chr1:211752914-211752923
25	JUND	chr1:211752806-211753419	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:211752164-211753354	HL-60	blood:	n/a	n/a
27	FOXA1	chr1:211752741-211753603	HepG2	liver:	n/a	n/a
28	BHLHE40	chr1:211752320-211753462	HepG2	liver:	n/a	chr1:211752458-211752474
29	POLR2A	chr1:211752986-211753395	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:211750309-211753857	K562	blood:	n/a	n/a
31	MXI1	chr1:211749213-211753952	SK-N-SH	brain:	n/a	n/a
32	FOXA1	chr1:211752748-211753599	HepG2	liver:	n/a	n/a
33	MAX	chr1:211750770-211753489	A549	lung:	n/a	chr1:211752598-211752608 chr1:211752767-211752776
34	POLR2A	chr1:211750925-211753362	GM19193	blood:	n/a	n/a
35	RAD21	chr1:211753070-211753417	HepG2	liver:	n/a	n/a
36	NFIC	chr1:211752330-211753385	HepG2	liver:	n/a	n/a
37	MYC	chr1:211750960-211753471	K562	blood:	n/a	chr1:211752598-211752608 chr1:211752767-211752776
38	NFYB	chr1:211752298-211753391	K562	blood:	n/a	chr1:211752623-211752638 chr1:211752625-211752640
39	SP1	chr1:211752103-211753495	HCT-116	colon:	n/a	chr1:211752739-211752748 chr1:211752738-211752748 chr1:211752737-211752749 chr1:211752597-211752608 chr1:211752711-211752720 chr1:211752839-211752848 chr1:211753013-211753022 chr1:211753012-211753024 chr1:211753013-211753023 chr1:211752711-211752721 chr1:211752834-211752848 chr1:211752739-211752748 chr1:211752710-211752722 chr1:211752598-211752607 chr1:211752710-211752722 chr1:211753014-211753023 chr1:211752738-211752747 chr1:211752712-211752721 chr1:211752597-211752609 chr1:211752837-211752849 chr1:211752712-211752721 chr1:211752837-211752849 chr1:211752711-211752721 chr1:211752838-211752848 chr1:211752599-211752608 chr1:211753012-211753024 chr1:211752259-211752273 chr1:211753164-211753174 chr1:211752838-211752847 chr1:211752598-211752608 chr1:211752738-211752748 chr1:211752707-211752721 chr1:211752598-211752608 chr1:211752597-211752609 chr1:211752734-211752748 chr1:211752737-211752749
40	POLR2A	chr1:211752240-211753654	HepG2	liver:	n/a	n/a
41	MXI1	chr1:211751009-211753775	HepG2	liver:	n/a	n/a
42	PML	chr1:211752029-211753631	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:211750798-211753380	GM12892	blood:	n/a	n/a
44	POLR2A	chr1:211752115-211753342	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:211752199-211753421	GM12891	blood:	n/a	n/a
46	POLR2A	chr1:211752895-211753367	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:211750987-211753647	K562	blood:	n/a	n/a
48	SIN3AK20	chr1:211752068-211753409	MCF-7	breast:	n/a	n/a
49	MAZ	chr1:211750708-211753726	K562	blood:	n/a	chr1:211752598-211752608 chr1:211753505-211753514 chr1:211752767-211752776
50	MAFK	chr1:211753092-211753476	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
2	chr1:211498857..211501622-chr1:211752568..211754249,2	K562	blood:
3	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
4	chr1:211752607..211756285-chr1:211771490..211773503,3	K562	blood:
5	chr1:211752517..211753385-chr13:114145050..114145629,2	Hela-S3	cervix:
6	chr1:211752607..211754839-chr1:211771160..211773503,2	K562	blood:
7	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
8	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:

Variant related genes	Relation type
SLC30A1	TF binding region
ENSG00000228792	Chromatin interaction
ENSG00000082512	Chromatin interaction
ENSG00000150403	Chromatin interaction
ENSG00000222080	Chromatin interaction
ENSG00000150401	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv3374509	chr1:211750979-211753977	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv1791933	chr1:211751208-211755204	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv1793880	chr1:211751208-211755204	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	esv3403046	chr1:211751354-211754202	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	esv1799275	chr1:211751816-211754866	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211749000-211753400	Active TSS	Aorta	Aorta
2	chr1:211749000-211753400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:211749400-211753400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:211749600-211753800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:211749800-211753400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:211749800-211753400	Active TSS	Fetal Muscle Trunk	muscle
7	chr1:211750000-211753400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr1:211750000-211753400	Active TSS	Ovary	ovary
9	chr1:211750400-211753600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:211750600-211753400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:211750600-211753400	Active TSS	Right Ventricle	heart
12	chr1:211751200-211753400	Active TSS	Thymus	Thymus
13	chr1:211751800-211753400	Active TSS	Fetal Intestine Small	intestine
14	chr1:211752000-211753400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:211752000-211753400	Active TSS	HepG2	liver
16	chr1:211752600-211753600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:211753000-211753400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:211753000-211753400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:211753000-211753400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:211753000-211753400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr1:211753000-211753400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr1:211753000-211753400	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr1:211753000-211753400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:211753000-211753400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr1:211753000-211753400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:211753000-211753400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr1:211753000-211753400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:211753000-211753400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:211753000-211753400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:211753000-211753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:211753000-211753400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr1:211753000-211753400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:211753000-211753400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:211753000-211753400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:211753000-211753400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:211753000-211753400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr1:211753000-211753400	Flanking Active TSS	Colonic Mucosa	Colon
38	chr1:211753000-211753400	Active TSS	Fetal Brain Male	brain
39	chr1:211753000-211753400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr1:211753000-211753400	Flanking Active TSS	Placenta	Placenta
41	chr1:211753000-211753400	Flanking Active TSS	Fetal Thymus	thymus
42	chr1:211753000-211753400	Flanking Active TSS	Dnd41	blood
43	chr1:211753000-211753400	Flanking Active TSS	HSMMtube	muscle
44	chr1:211753000-211753400	Flanking Active TSS	NH-A	brain
45	chr1:211753000-211753600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:211753000-211753600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr1:211753000-211753600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:211753000-211753600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:211753000-211753600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:211753000-211753600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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