Variant report

Variant	esv2754225
Chromosome Location	chr2:178750493-178768493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:178758724-178758873	K562	blood:	n/a	n/a
2	BHLHE40	chr2:178758805-178758812	K562	blood:	n/a	n/a
3	CBX3	chr2:178758639-178759056	K562	blood:	n/a	n/a
4	CBX3	chr2:178758690-178758974	K562	blood:	n/a	n/a
5	CCNT2	chr2:178758777-178759016	K562	blood:	n/a	n/a
6	CEBPB	chr2:178750766-178751266	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr2:178753299-178753796	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr2:178750771-178751184	ECC-1	luminal epithelium:	n/a	n/a
9	CEBPB	chr2:178753331-178753690	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:178753356-178753745	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPD	chr2:178758618-178758904	K562	blood:	n/a	n/a
12	CHD2	chr2:178754700-178755021	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:178759682-178759731	Medullo	brain:	n/a	n/a
14	CUX1	chr2:178758705-178758918	K562	blood:	n/a	n/a
15	EGR1	chr2:178758633-178758918	K562	blood:	n/a	chr2:178758790-178758800
16	EP300	chr2:178751381-178752168	ECC-1	luminal epithelium:	n/a	chr2:178751893-178751907 chr2:178751918-178751928 chr2:178751802-178751811
17	EP300	chr2:178750677-178751278	ECC-1	luminal epithelium:	n/a	n/a
18	EP300	chr2:178750747-178751248	ECC-1	luminal epithelium:	n/a	n/a
19	EP300	chr2:178753324-178753913	ECC-1	luminal epithelium:	n/a	n/a
20	EP300	chr2:178751453-178752030	ECC-1	luminal epithelium:	n/a	chr2:178751893-178751907 chr2:178751918-178751928 chr2:178751802-178751811
21	EP300	chr2:178758624-178758978	K562	blood:	n/a	n/a
22	ESR1	chr2:178751569-178751981	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr2:178751547-178751961	ECC-1	luminal epithelium:	n/a	n/a
24	ESR1	chr2:178751561-178751903	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr2:178751555-178751982	ECC-1	luminal epithelium:	n/a	n/a
26	FOS	chr2:178764854-178765204	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr2:178753364-178753677	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:178764814-178765248	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:178766150-178766302	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr2:178764849-178765196	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr2:178764832-178765248	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr2:178753407-178753625	MCF10A-Er-Src	breast:	n/a	n/a
33	FOXM1	chr2:178750619-178751353	ECC-1	luminal epithelium:	n/a	n/a
34	FOXM1	chr2:178750655-178751357	ECC-1	luminal epithelium:	n/a	n/a
35	FOXM1	chr2:178751376-178752143	ECC-1	luminal epithelium:	n/a	n/a
36	GATA1	chr2:178758330-178759614	K562	blood:	n/a	n/a
37	GATA2	chr2:178767400-178767946	SH-SY5Y	brain:	n/a	n/a
38	GATA2	chr2:178758577-178758976	K562	blood:	n/a	n/a
39	GATA2	chr2:178758682-178758962	HUVEC	blood vessel:	n/a	n/a
40	GATA2	chr2:178758578-178758987	K562	blood:	n/a	n/a
41	GATA3	chr2:178760842-178760958	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr2:178758753-178758797	SH-SY5Y	brain:	n/a	n/a
43	JUND	chr2:178758720-178758891	K562	blood:	n/a	n/a
44	MAFF	chr2:178754831-178755028	K562	blood:	n/a	n/a
45	MAX	chr2:178753335-178753825	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr2:178754660-178754912	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAZ	chr2:178758764-178758958	K562	blood:	n/a	n/a
48	MYC	chr2:178751021-178751031	MCF10A-Er-Src	breast:	n/a	n/a
49	MYC	chr2:178753260-178753733	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr2:178764832-178765155	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178748719..178750750-chr2:178757747..178760648,2	MCF-7	breast:
2	chr2:178755879..178757625-chr2:178767770..178770465,2	K562	blood:
3	chr2:178757808..178759787-chr2:178940377..178942583,2	K562	blood:
4	chr2:178763789..178767498-chr2:178770691..178773361,4	K562	blood:
5	chr2:178765919..178767498-chr2:178770984..178773004,2	K562	blood:
6	chr2:178748719..178750750-chr2:178757747..178760648,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDE11A	TF binding region
ENSG00000128655	chromatin interactions

Extended variants
information (count: 632 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117650665	chr2:178750497-178750498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541494624	chr2:178750533-178750534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111877329	chr2:178750562-178750563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371749312	chr2:178750646-178750647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528708024	chr2:178750652-178750653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376506777	chr2:178750667-178750668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561548764	chr2:178750668-178750669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370820493	chr2:178750684-178750685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369980222	chr2:178750705-178750706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140110993	chr2:178750707-178750708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183273971	chr2:178750727-178750728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570772986	chr2:178750746-178750747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548850484	chr2:178750767-178750768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550186785	chr2:178750828-178750829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186478316	chr2:178750856-178750857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190471110	chr2:178750893-178750894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561637100	chr2:178750901-178750902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535976862	chr2:178750904-178750905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555855021	chr2:178750951-178750952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568764630	chr2:178750965-178750966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145201296	chr2:178750986-178750987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535265350	chr2:178750988-178750989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34934707	chr2:178751060-178751061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2695099	chr2:178751114-178751115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34171827	chr2:178751155-178751156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543723340	chr2:178751171-178751172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555760594	chr2:178751204-178751205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373112195	chr2:178751254-178751255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575584735	chr2:178751275-178751276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570784469	chr2:178751328-178751329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541535697	chr2:178751335-178751336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183044605	chr2:178751353-178751354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3905344	chr2:178751356-178751357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572044296	chr2:178751372-178751373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79269097	chr2:178751401-178751402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373788999	chr2:178751450-178751451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533275233	chr2:178751479-178751480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146880313	chr2:178751480-178751481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76880991	chr2:178751529-178751530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529344235	chr2:178751551-178751552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549392013	chr2:178751557-178751558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2695756	chr2:178751564-178751565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs80176279	chr2:178751585-178751586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188247417	chr2:178751695-178751696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551965417	chr2:178751698-178751699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571720601	chr2:178751703-178751704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191344152	chr2:178751754-178751755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182770339	chr2:178751804-178751805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557193081	chr2:178751832-178751833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573985350	chr2:178751834-178751835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178746000-178759200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:178747800-178750600	Enhancers	Psoas Muscle	Psoas
4	chr2:178748000-178751000	Weak transcription	Liver	Liver
5	chr2:178750000-178751200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:178750000-178751800	Enhancers	Colon Smooth Muscle	Colon
7	chr2:178750000-178752200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:178750600-178751600	Weak transcription	Psoas Muscle	Psoas
9	chr2:178750800-178751200	Enhancers	Adipose Nuclei	Adipose
10	chr2:178751000-178752000	Enhancers	Fetal Kidney	kidney
11	chr2:178751000-178754200	Enhancers	Liver	Liver
12	chr2:178751200-178752200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:178751600-178751800	Enhancers	Psoas Muscle	Psoas
14	chr2:178751800-178752200	Weak transcription	Psoas Muscle	Psoas
15	chr2:178751800-178752600	Weak transcription	Pancreas	Pancrea
16	chr2:178751800-178755600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:178752200-178752600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr2:178752200-178752600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:178752200-178753000	Enhancers	Psoas Muscle	Psoas
20	chr2:178752400-178752600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:178752400-178752800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:178752600-178752800	Enhancers	Pancreas	Pancrea
23	chr2:178752600-178753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:178752600-178753600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:178752600-178754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:178752800-178753200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:178753000-178753400	Weak transcription	Psoas Muscle	Psoas
28	chr2:178753200-178755400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:178753400-178753600	Enhancers	Psoas Muscle	Psoas
30	chr2:178753400-178753800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:178753400-178753800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:178753400-178755200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:178753400-178755200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:178753400-178755400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:178753400-178755400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:178753400-178755600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:178753600-178754600	Weak transcription	Psoas Muscle	Psoas
38	chr2:178753600-178755200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:178753800-178754600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:178753800-178754800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:178753800-178754800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:178754000-178755000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:178754600-178755000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:178754600-178755200	Enhancers	K562	blood
45	chr2:178754600-178755400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:178754600-178755400	Enhancers	Psoas Muscle	Psoas
47	chr2:178754800-178755000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:178754800-178755200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:178754800-178755200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:178754800-178755400	Enhancers	H1 Cell Line	embryonic stem cell

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