Variant report

Variant	esv2759250
Chromosome Location	chr4:44960444-45033572
allele	n/a
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	BHLHE40	chr4:45015052-45015122	K562	blood:	n/a	n/a
2	CEBPB	chr4:45001825-45002129	HepG2	liver:	n/a	chr4:45001952-45001963
3	CEBPB	chr4:45001939-45002041	H1-hESC	embryonic stem cell:	n/a	chr4:45001952-45001963
4	CTCF	chr4:44988146-44988265	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:44992280-44992430	GM12869	blood:	n/a	n/a
6	CTCF	chr4:44984357-44984405	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr4:44970220-44970370	GM12872	blood:	n/a	n/a
8	CTCF	chr4:44970060-44970210	GM12866	blood:	n/a	n/a
9	CTCF	chr4:44984356-44984406	LNCaP	prostate:	n/a	n/a
10	CTCF	chr4:44970060-44970350	RPTEC	kidney:	n/a	n/a
11	CTCF	chr4:44970080-44970230	RPTEC	kidney:	n/a	n/a
12	CTCF	chr4:44970400-44970550	BE2_C	brain:	n/a	n/a
13	CTCF	chr4:44970140-44970290	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr4:44988171-44988233	LNCaP	prostate:	n/a	n/a
15	CTCF	chr4:44988162-44988262	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:44988100-44988250	HMEC	breast:	n/a	n/a
17	CTCF	chr4:44970180-44970330	BE2_C	brain:	n/a	n/a
18	CTCF	chr4:44970400-44970550	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr4:44988162-44988263	NHEK	skin:	n/a	n/a
20	E2F4	chr4:45003167-45003231	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr4:45007075-45007175	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr4:45007061-45007463	GM12878	blood:	n/a	n/a
23	FOS	chr4:44986157-44986357	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:44987911-44988351	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:45006934-45007248	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
26	FOS	chr4:44985217-44985714	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:44986129-44986329	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:44987850-44988275	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:45006975-45007191	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
30	FOS	chr4:44985188-44985610	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr4:44963114-44963203	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:44987852-44988257	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:44985221-44985644	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:44986181-44986443	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr4:45024485-45024504	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr4:44987921-44988267	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr4:45006927-45007497	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007447-45007459 chr4:45007108-45007120
38	FOS	chr4:44963412-44963977	MCF10A-Er-Src	breast:	n/a	n/a
39	FOSL2	chr4:44998424-44998653	MCF-7	breast:	n/a	n/a
40	GATA3	chr4:44998353-44998597	T-47D	breast:	n/a	n/a
41	GATA3	chr4:44998187-44998696	MCF-7	breast:	n/a	n/a
42	GATA3	chr4:44998254-44998688	T-47D	breast:	n/a	n/a
43	GATA3	chr4:44998161-44998680	MCF-7	breast:	n/a	n/a
44	GATA3	chr4:44998170-44998654	MCF-7	breast:	n/a	n/a
45	JUND	chr4:44985467-44985714	HepG2	liver:	n/a	chr4:44985581-44985592
46	KAP1	chr4:45023149-45023590	K562	blood:	n/a	n/a
47	MAFF	chr4:44987109-44987509	HepG2	liver:	n/a	chr4:44987292-44987310
48	MAFF	chr4:44963016-44963216	HepG2	liver:	n/a	n/a
49	MAFF	chr4:44973416-44973610	HepG2	liver:	n/a	n/a
50	MAFF	chr4:44987123-44987486	K562	blood:	n/a	chr4:44987292-44987310

No.	Distal block	Cell Line	Cell type
1	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
2	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
3	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
4	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:

Variant related genes	Relation type
ENSG00000248744	TF binding region

Extended variants
information (count: 2527 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2527 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10032741	chr4:44960444-44960445	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372105189	chr4:44960449-44960450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556621317	chr4:44960450-44960451	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56196939	chr4:44960462-44960463	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536461712	chr4:44960511-44960512	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554545471	chr4:44960528-44960529	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56373602	chr4:44960529-44960530	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539833759	chr4:44960592-44960593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56318819	chr4:44960594-44960595	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566376881	chr4:44960617-44960618	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369801371	chr4:44960626-44960627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374114385	chr4:44960638-44960639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181237461	chr4:44960641-44960642	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186214106	chr4:44960667-44960668	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543865915	chr4:44960692-44960693	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9996140	chr4:44960776-44960777	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191434315	chr4:44960792-44960793	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548789508	chr4:44960795-44960796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4616791	chr4:44960798-44960799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149357627	chr4:44960850-44960851	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528030622	chr4:44960866-44960867	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552600170	chr4:44960878-44960879	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570812373	chr4:44960882-44960883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4613605	chr4:44960920-44960921	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs558347101	chr4:44960921-44960922	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4308399	chr4:44960959-44960960	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182125237	chr4:44960996-44960997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536044142	chr4:44961009-44961010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544392083	chr4:44961010-44961011	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554791390	chr4:44961015-44961016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186950205	chr4:44961044-44961045	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533791657	chr4:44961050-44961051	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562701543	chr4:44961055-44961056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2348808	chr4:44961061-44961062	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576398323	chr4:44961102-44961103	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542084025	chr4:44961103-44961104	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1587239	chr4:44961116-44961117	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562418471	chr4:44961117-44961118	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191028805	chr4:44961119-44961120	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144669150	chr4:44961161-44961162	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2348809	chr4:44961174-44961175	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552590110	chr4:44961219-44961220	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113343207	chr4:44961254-44961255	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3076762	chr4:44961255-44961256	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376856129	chr4:44961256-44961257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3076763	chr4:44961257-44961258	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112704125	chr4:44961258-44961259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148123740	chr4:44961310-44961311	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183507904	chr4:44961323-44961324	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188606988	chr4:44961334-44961335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44959800-44962200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:44959800-44963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:44962200-44963000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:44962600-44966800	Enhancers	HMEC	breast
5	chr4:44963000-44964600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:44963200-44963600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:44963400-44964400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:44963600-44964400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:44963600-44965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:44964600-44965400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:44965400-44966000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:44965400-44966000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:44966000-44967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:44966000-44967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:44966800-44967200	Weak transcription	HMEC	breast
16	chr4:44967200-44968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:44967200-44969400	Enhancers	HMEC	breast
18	chr4:44967400-44967600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:44970200-44971000	Enhancers	Fetal Heart	heart
21	chr4:44975800-44976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:44984200-44984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:44984200-44984400	Enhancers	HMEC	breast
24	chr4:44984400-44984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:44984400-44985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:44984400-44985400	Weak transcription	HMEC	breast
27	chr4:44985200-44986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:44985400-44988000	Enhancers	HMEC	breast
30	chr4:44985800-44986400	Enhancers	Fetal Stomach	stomach
31	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:44987800-44988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:44996800-44997400	Enhancers	HMEC	breast
37	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:45000600-45000800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr4:45006200-45008400	Enhancers	HMEC	breast
43	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:45006400-45006600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:45006400-45006800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:45006400-45007200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:45006400-45007400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:45006600-45007400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:45006800-45007400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:45007200-45007400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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