Variant report

Variant	rs545774589
Chromosome Location	chr2:234264199-234264200
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:234264040-234264575	T-47D	breast:	n/a	n/a
2	POLR2A	chr2:234263905-234266140	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:234263828-234264767	SK-N-MC	brain:	n/a	n/a
4	GATA3	chr2:234264140-234264467	T-47D	breast:	n/a	n/a
5	POLR2A	chr2:234263694-234264275	MCF-7	breast:	n/a	n/a
6	SIN3A	chr2:234263645-234264237	H1-hESC	embryonic stem cell:	n/a	chr2:234264179-234264190
7	BCL3	chr2:234263832-234264395	A549	lung:	n/a	n/a
8	MAX	chr2:234263579-234264404	A549	lung:	n/a	n/a
9	ZEB1	chr2:234263853-234264345	GM12878	blood:	n/a	chr2:234264056-234264065 chr2:234264057-234264064
10	MYC	chr2:234264046-234264234	MCF-7	breast:	n/a	n/a
11	ELF1	chr2:234263898-234264310	GM12878	blood:	n/a	n/a
12	MAX	chr2:234263840-234264307	MCF-7	breast:	n/a	n/a
13	MXI1	chr2:234264149-234264335	GM12878	blood:	n/a	n/a
14	MTA3	chr2:234263600-234264254	GM12878	blood:	n/a	n/a
15	ZNF263	chr2:234263654-234264339	HEK293-T-REx	kidney:	n/a	chr2:234263831-234263852
16	POLR2A	chr2:234263900-234264537	HepG2	liver:	n/a	n/a
17	MAZ	chr2:234264100-234264207	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr2:234263926-234264226	H1-hESC	embryonic stem cell:	n/a	chr2:234264104-234264113
19	TCF12	chr2:234263977-234264269	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234264163-234264213	HEEpiC	esophagus:	n/a
2	chr2:234264163-234264213	Caco-2	colon:	n/a
3	chr2:234264163-234264213	GM06990	blood:	n/a
4	chr2:234264163-234264213	PANC-1	pancreas:	n/a
5	chr2:234264163-234264213	ovcar-3	ovarian:	n/a
6	chr2:234264163-234264213	T-47D	breast:	n/a
7	chr2:234264163-234264213	NH-A	brain:	n/a
8	chr2:234264163-234264213	ECC-1	luminal epithelium:	n/a
9	chr2:234264163-234264213	HRPEpiC	eye:	n/a
10	chr2:234264163-234264213	AG04450	lung:	fetal
11	chr2:234264163-234264213	ProgFib	skin:	n/a
12	chr2:234264163-234264213	MCF10A-Er-Src	breast:	n/a
13	chr2:234264163-234264213	PFSK-1	brain:	n/a
14	chr2:234264163-234264213	HCF	heart:	n/a
15	chr2:234264163-234264213	SK-N-MC	brain:	n/a
16	chr2:234264163-234264213	HCPEpiC	choroid plexus:	n/a
17	chr2:234264163-234264213	RPTEC	kidney:	n/a
18	chr2:234264163-234264213	NHDF-neo	bronchial:	n/a
19	chr2:234264163-234264213	GM12892	blood:	n/a
20	chr2:234264163-234264213	H1-hESC	embryonic stem cell:	embryo
21	chr2:234264163-234264213	HepG2	liver:	n/a
22	chr2:234264163-234264213	HPAEpiC	pulmonary alveolar:	n/a
23	chr2:234264163-234264213	NHBE	bronchial:	n/a
24	chr2:234264163-234264213	K562	blood:	n/a
25	chr2:234264163-234264213	Jurkat	blood:	n/a
26	chr2:234264163-234264213	Hela-S3	cervix:	n/a
27	chr2:234264163-234264213	AG09319	gingival:	n/a
28	chr2:234264163-234264213	Hepatocyte	liver:	n/a
29	chr2:234264163-234264213	NT2-D1	testis:	n/a
30	chr2:234264163-234264213	LNCaP	prostate:	n/a
31	chr2:234264163-234264213	AoSMC	blood vessel:	n/a
32	chr2:234264163-234264213	AG10803	skin:	n/a
33	chr2:234264163-234264213	SAEC	small airway:	n/a
34	chr2:234264163-234264213	HCM	heart:	n/a
35	chr2:234264163-234264213	BE2_C	brain:	n/a
36	chr2:234264163-234264213	GM19239	blood:	n/a
37	chr2:234264163-234264213	HRE	kidney:	n/a
38	chr2:234264163-234264213	IMR90	lung:	fetal
39	chr2:234264163-234264213	MCF-7	breast:	n/a
40	chr2:234264163-234264213	HRCEpiC	kidney:	n/a
41	chr2:234264163-234264213	SK-N-SH_RA	brain:	n/a
42	chr2:234264163-234264213	HNPCEpiC	eye:	n/a
43	chr2:234264163-234264213	HAEpiC	amniotic membrane:	n/a
44	chr2:234264163-234264213	HCT-116	colon:	n/a
45	chr2:234264163-234264213	PrEC	prostate:	n/a
46	chr2:234264163-234264213	SKMC	muscle:	n/a
47	chr2:234264163-234264213	SK-N-SH	brain:	n/a
48	chr2:234264163-234264213	NB4	blood:	n/a
49	chr2:234264163-234264213	HEK293	kidney:	embryo
50	chr2:234264163-234264213	GM12891	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234238246..234240780-chr2:234263095..234264681,2	K562	blood:
2	chr2:234198551..234200102-chr2:234262598..234264638,2	MCF-7	breast:
3	chr2:234163205..234166188-chr2:234263952..234265730,2	MCF-7	breast:
4	chr2:234195095..234197515-chr2:234263227..234265841,2	MCF-7	breast:
5	chr2:234242282..234244298-chr2:234262922..234265541,2	MCF-7	breast:
6	chr2:234263404..234265699-chr2:234319043..234321996,3	MCF-7	breast:
7	chr2:234263725..234265766-chr2:234287688..234290576,3	MCF-7	breast:
8	chr2:234259434..234265610-chr2:234290886..234296562,9	MCF-7	breast:
9	chr2:234160002..234161727-chr2:234263204..234265213,2	MCF-7	breast:
10	chr2:234159288..234161886-chr2:234264094..234265602,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259793	TF binding region
ENSG00000259793	CpG island
ENSG00000077044	Chromatin interaction
ENSG00000251791	Chromatin interaction
ENSG00000085978	Chromatin interaction
ENSG00000130561	Chromatin interaction
ENSG00000201013	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS 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
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3421822	chr2:234262038-234264786	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv3363039	chr2:234262388-234264686	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	esv1796836	chr2:234263212-234266842	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234262200-234264200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr2:234262400-234264200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:234262400-234264400	Active TSS	Fetal Kidney	kidney
4	chr2:234262400-234265000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:234262600-234264200	Active TSS	Aorta	Aorta
6	chr2:234262600-234264200	Active TSS	Gastric	stomach
7	chr2:234262600-234264600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:234262600-234265000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr2:234262800-234264200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:234262800-234264200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:234262800-234264200	Active TSS	Fetal Lung	lung
12	chr2:234262800-234264400	Active TSS	NHDF-Ad	bronchial
13	chr2:234262800-234264400	Active TSS	NHLF	lung
14	chr2:234262800-234264600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:234262800-234264800	Active TSS	HSMM	muscle
16	chr2:234262800-234264800	Active TSS	HSMMtube	muscle
17	chr2:234263000-234264200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:234263000-234264600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:234263200-234264200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:234263200-234264600	Active TSS	Small Intestine	intestine
21	chr2:234263600-234264200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:234263600-234264200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:234263600-234264200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:234263600-234264200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:234263600-234264200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
26	chr2:234263600-234264400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:234263600-234264400	Flanking Active TSS	Psoas Muscle	Psoas
28	chr2:234263600-234264400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr2:234263600-234264600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr2:234263600-234264600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:234263600-234264800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:234263600-234264800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr2:234263600-234265000	Flanking Active TSS	Placenta	Placenta
34	chr2:234263600-234265200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:234263800-234264200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:234263800-234264200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:234263800-234264200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:234263800-234264200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:234263800-234264200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
40	chr2:234263800-234264200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr2:234263800-234264200	Flanking Active TSS	Right Ventricle	heart
42	chr2:234263800-234264200	Active TSS	Stomach Mucosa	stomach
43	chr2:234263800-234264200	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr2:234263800-234264200	Flanking Active TSS	Spleen	Spleen
45	chr2:234263800-234264400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:234263800-234264400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
47	chr2:234263800-234264400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:234263800-234264400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:234263800-234264400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:234263800-234264400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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