Variant report

Variant	rs566227887
Chromosome Location	chr2:74210824-74210825
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	chr2:74210765-74213232	GM12878	blood:	n/a	n/a
2	TAF1	chr2:74210498-74211836	ECC-1	luminal epithelium:	n/a	n/a
3	FOXM1	chr2:74210662-74211759	MCF-7	breast:	n/a	n/a
4	STAT3	chr2:74210724-74211262	MCF10A-Er-Src	breast:	n/a	chr2:74211142-74211149
5	YY1	chr2:74210463-74210999	GM12878	blood:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
6	YY1	chr2:74210480-74211106	HCT-116	colon:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
7	POLR2A	chr2:74210578-74212297	GM12892	blood:	n/a	n/a
8	FOS	chr2:74210765-74211293	MCF10A-Er-Src	breast:	n/a	chr2:74211211-74211225
9	PML	chr2:74210348-74212317	GM12878	blood:	n/a	n/a
10	TCF7L2	chr2:74210640-74212797	HCT-116	colon:	n/a	n/a
11	POLR2A	chr2:74210759-74213608	GM19193	blood:	n/a	n/a
12	MYC	chr2:74210632-74211372	MCF10A-Er-Src	breast:	n/a	chr2:74211332-74211342 chr2:74211170-74211180
13	YY1	chr2:74210505-74211372	ECC-1	luminal epithelium:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
14	YY1	chr2:74210529-74211103	HepG2	liver:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
15	GATA3	chr2:74210728-74211102	T-47D	breast:	n/a	n/a
16	EP300	chr2:74210555-74211719	ECC-1	luminal epithelium:	n/a	chr2:74210842-74210858 chr2:74211646-74211659 chr2:74211611-74211620
17	POLR2A	chr2:74210769-74211905	HepG2	liver:	n/a	n/a
18	TCF12	chr2:74210567-74211386	MCF-7	breast:	n/a	chr2:74210980-74210990
19	EGR1	chr2:74210522-74211263	ECC-1	luminal epithelium:	n/a	chr2:74210648-74210663 chr2:74210888-74210895 chr2:74210644-74210659
20	MYBL2	chr2:74210438-74211583	HepG2	liver:	n/a	n/a
21	EP300	chr2:74210516-74212461	ECC-1	luminal epithelium:	n/a	chr2:74212012-74212028 chr2:74211731-74211747 chr2:74210842-74210858 chr2:74211646-74211659 chr2:74211611-74211620
22	MYBL2	chr2:74210323-74210971	HepG2	liver:	n/a	n/a
23	GATA3	chr2:74210695-74211232	T-47D	breast:	n/a	n/a
24	SRF	chr2:74210592-74211444	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr2:74210469-74212298	MCF-7	breast:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74212007-74212018 chr2:74212007-74212018
26	E2F6	chr2:74210614-74212293	H1-hESC	embryonic stem cell:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
27	YY1	chr2:74210504-74211412	ECC-1	luminal epithelium:	n/a	chr2:74210633-74210645 chr2:74210634-74210656
28	RUNX3	chr2:74210799-74212154	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:74208051-74212199	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr2:74210597-74212385	MCF-7	breast:	n/a	n/a
31	MBD4	chr2:74210485-74211632	HepG2	liver:	n/a	n/a
32	CREB1	chr2:74210740-74211253	ECC-1	luminal epithelium:	n/a	n/a
33	GATA3	chr2:74210817-74211175	MCF-7	breast:	n/a	n/a
34	ZNF263	chr2:74210542-74211636	HEK293-T-REx	kidney:	n/a	n/a
35	CTCF	chr2:74210820-74210970	WERI-Rb-1	eye:	n/a	n/a
36	RAD21	chr2:74210421-74211753	ECC-1	luminal epithelium:	n/a	chr2:74211604-74211618 chr2:74211730-74211743 chr2:74211603-74211622 chr2:74211558-74211572
37	MYC	chr2:74210151-74213343	A549	lung:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74213042-74213061 chr2:74212007-74212018 chr2:74212007-74212018
38	POLR2A	chr2:74210733-74212841	A549	lung:	n/a	n/a
39	FOXM1	chr2:74210473-74211515	MCF-7	breast:	n/a	n/a
40	SIN3AK20	chr2:74210531-74211045	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr2:74210731-74211053	H1-hESC	embryonic stem cell:	n/a	n/a
42	STAT1	chr2:74210627-74210874	GM12878	blood:	n/a	chr2:74210649-74210661
43	USF1	chr2:74210706-74211376	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr2:74210667-74212281	HCT-116	colon:	n/a	n/a
45	NFIC	chr2:74210489-74211787	HepG2	liver:	n/a	n/a
46	FOXA1	chr2:74210765-74211049	T-47D	breast:	n/a	n/a
47	EP300	chr2:74210612-74210867	GM12878	blood:	n/a	chr2:74210842-74210858
48	MAX	chr2:74210609-74212184	GM12878	blood:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74212007-74212018 chr2:74212007-74212018
49	TEAD4	chr2:74210688-74211315	MCF-7	breast:	n/a	n/a
50	MXI1	chr2:74210693-74211187	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74209551..74211458-chr6:30582757..30584822,2	MCF-7	breast:
2	chr2:74194837..74202788-chr2:74203103..74212249,15	K562	blood:
3	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
4	chr2:74177818..74179521-chr2:74208626..74211088,2	MCF-7	breast:
5	chr2:74187365..74198553-chr2:74205167..74212961,17	MCF-7	breast:
6	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
7	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
8	chr2:74209447..74211523-chr2:74377686..74379947,2	MCF-7	breast:
9	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
10	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
11	chr2:74006477..74008068-chr2:74209603..74212198,2	MCF-7	breast:
12	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
13	chr2:74209964..74211607-chr2:74281437..74283507,2	K562	blood:
14	chr2:74210080..74211906-chr2:74412687..74415534,2	MCF-7	breast:
15	chr2:74209535..74211828-chr2:97552282..97555129,2	MCF-7	breast:
16	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
17	chr2:74210101..74212862-chr2:74733390..74736109,2	K562	blood:
18	chr2:74171083..74173536-chr2:74209389..74211761,2	K562	blood:
19	chr13:25824565..25826154-chr2:74209246..74210998,2	MCF-7	breast:
20	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
21	chr2:74175475..74176994-chr2:74209729..74212006,2	MCF-7	breast:
22	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
23	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
24	chr2:74209217..74211366-chr2:74294188..74296510,3	MCF-7	breast:
25	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:
26	chr2:74210601..74212361-chr2:74374459..74376721,2	MCF-7	breast:
27	chr2:70312056..70313801-chr2:74209899..74211567,2	MCF-7	breast:
28	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:

Variant related genes	Relation type
DGUOK-AS1	TF binding region
ENSG00000255989	TF binding region
ENSG00000235499	TF binding region
ENSG00000222894	Chromatin interaction
ENSG00000201876	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000115289	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3444943	chr2:74210644-74214042	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:74206800-74211400	Flanking Active TSS	NHEK	skin
2	chr2:74208600-74211000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:74208600-74211000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:74208600-74211000	Enhancers	Fetal Heart	heart
5	chr2:74208600-74211200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:74208800-74211000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:74208800-74211000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:74209000-74211400	Weak transcription	Ovary	ovary
9	chr2:74209200-74211000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:74209200-74211000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:74209200-74211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:74209200-74211400	Weak transcription	Aorta	Aorta
13	chr2:74209400-74211000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:74209800-74211000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:74209800-74211000	Weak transcription	Lung	lung
16	chr2:74210000-74211000	Bivalent Enhancer	Fetal Lung	lung
17	chr2:74210000-74211000	Weak transcription	HSMMtube	muscle
18	chr2:74210000-74211200	Weak transcription	Right Ventricle	heart
19	chr2:74210000-74211200	Weak transcription	Small Intestine	intestine
20	chr2:74210200-74211200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:74210200-74211600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:74210400-74211000	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:74210400-74211000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:74210400-74211000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:74210400-74211000	Enhancers	Adipose Nuclei	Adipose
26	chr2:74210400-74211200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
27	chr2:74210400-74211200	Weak transcription	Stomach Mucosa	stomach
28	chr2:74210400-74211600	Flanking Active TSS	HMEC	breast
29	chr2:74210400-74211800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr2:74210400-74211800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:74210600-74211000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:74210600-74211000	Active TSS	Esophagus	oesophagus
33	chr2:74210600-74211000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:74210600-74211000	Active TSS	Pancreas	Pancrea
35	chr2:74210600-74211000	Enhancers	Right Atrium	heart
36	chr2:74210600-74211000	Active TSS	Stomach Smooth Muscle	stomach
37	chr2:74210600-74211000	Enhancers	Dnd41	blood
38	chr2:74210600-74211200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:74210600-74211200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr2:74210600-74211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:74210600-74211200	Flanking Active TSS	Liver	Liver
42	chr2:74210600-74211200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr2:74210600-74211200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr2:74210600-74211400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:74210600-74211400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr2:74210600-74211400	Flanking Active TSS	GM12878-XiMat	blood
47	chr2:74210600-74211600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:74210600-74211600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:74210600-74211600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr2:74210600-74211600	Flanking Active TSS	Primary T cells from cord blood	blood

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