Variant report

Variant	nsv10488
Chromosome Location	chr4:44965278-45011616
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	CEBPB	chr4:45001825-45002129	HepG2	liver:	n/a	chr4:45001952-45001963
2	CEBPB	chr4:45001939-45002041	H1-hESC	embryonic stem cell:	n/a	chr4:45001952-45001963
3	CTCF	chr4:44970180-44970330	BE2_C	brain:	n/a	n/a
4	CTCF	chr4:44988162-44988263	NHEK	skin:	n/a	n/a
5	CTCF	chr4:44988100-44988250	HMEC	breast:	n/a	n/a
6	CTCF	chr4:44970060-44970350	RPTEC	kidney:	n/a	n/a
7	CTCF	chr4:44988162-44988262	MCF-7	breast:	n/a	n/a
8	CTCF	chr4:44992280-44992430	GM12869	blood:	n/a	n/a
9	CTCF	chr4:44970400-44970550	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr4:44970140-44970290	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr4:44988171-44988233	LNCaP	prostate:	n/a	n/a
12	CTCF	chr4:44970060-44970210	GM12866	blood:	n/a	n/a
13	CTCF	chr4:44970400-44970550	BE2_C	brain:	n/a	n/a
14	CTCF	chr4:44970220-44970370	GM12872	blood:	n/a	n/a
15	CTCF	chr4:44984356-44984406	LNCaP	prostate:	n/a	n/a
16	CTCF	chr4:44970080-44970230	RPTEC	kidney:	n/a	n/a
17	CTCF	chr4:44984357-44984405	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:44988146-44988265	MCF-7	breast:	n/a	n/a
19	E2F4	chr4:45003167-45003231	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr4:45007075-45007175	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr4:45007061-45007463	GM12878	blood:	n/a	n/a
22	FOS	chr4:44987850-44988275	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:44986157-44986357	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:45006927-45007497	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007447-45007459 chr4:45007108-45007120
25	FOS	chr4:44986129-44986329	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr4:44987852-44988257	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:44985188-44985610	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:44985221-44985644	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:44986181-44986443	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr4:45006934-45007248	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
31	FOS	chr4:44987921-44988267	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:45006975-45007191	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
33	FOS	chr4:44985217-44985714	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:44987911-44988351	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL2	chr4:44998424-44998653	MCF-7	breast:	n/a	n/a
36	GATA3	chr4:44998161-44998680	MCF-7	breast:	n/a	n/a
37	GATA3	chr4:44998170-44998654	MCF-7	breast:	n/a	n/a
38	GATA3	chr4:44998254-44998688	T-47D	breast:	n/a	n/a
39	GATA3	chr4:44998187-44998696	MCF-7	breast:	n/a	n/a
40	GATA3	chr4:44998353-44998597	T-47D	breast:	n/a	n/a
41	JUND	chr4:44985467-44985714	HepG2	liver:	n/a	chr4:44985581-44985592
42	MAFF	chr4:44987123-44987486	K562	blood:	n/a	chr4:44987292-44987310
43	MAFF	chr4:44973416-44973610	HepG2	liver:	n/a	n/a
44	MAFF	chr4:44987109-44987509	HepG2	liver:	n/a	chr4:44987292-44987310
45	MAFK	chr4:44987043-44987589	GM12878	blood:	n/a	chr4:44987294-44987309
46	MAFK	chr4:44987114-44987492	HepG2	liver:	n/a	chr4:44987294-44987309
47	MAFK	chr4:44973385-44973604	HepG2	liver:	n/a	chr4:44973465-44973480
48	MAFK	chr4:44987091-44987493	H1-hESC	embryonic stem cell:	n/a	chr4:44987294-44987309
49	MAFK	chr4:44987127-44987487	Hela-S3	cervix:	n/a	chr4:44987294-44987309
50	MAFK	chr4:44987101-44987484	K562	blood:	n/a	chr4:44987294-44987309

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	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
4	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248744	TF binding region

Extended variants
information (count: 1829 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1829 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556144546	chr4:44965281-44965282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146579692	chr4:44965282-44965283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191658958	chr4:44965303-44965304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1390925	chr4:44965317-44965318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73244689	chr4:44965336-44965337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139110429	chr4:44965459-44965460	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547450641	chr4:44965507-44965508	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557162124	chr4:44965508-44965509	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565664081	chr4:44965511-44965512	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1390924	chr4:44965514-44965515	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536500025	chr4:44965518-44965519	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554457990	chr4:44965565-44965566	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1390923	chr4:44965590-44965591	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540832117	chr4:44965636-44965637	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539868471	chr4:44965738-44965739	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558213822	chr4:44965739-44965740	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565047243	chr4:44965757-44965758	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73812450	chr4:44965762-44965763	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79203467	chr4:44965804-44965805	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530238116	chr4:44965807-44965808	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62409706	chr4:44965841-44965842	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576951151	chr4:44965851-44965852	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560792634	chr4:44965858-44965859	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144778316	chr4:44965874-44965875	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200268654	chr4:44965886-44965887	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201253329	chr4:44965896-44965897	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149600541	chr4:44965905-44965906	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141098716	chr4:44965906-44965907	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552639636	chr4:44965923-44965924	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71190292	chr4:44965929-44965930	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77200747	chr4:44965930-44965931	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76830926	chr4:44965932-44965933	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76726629	chr4:44965933-44965934	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6857259	chr4:44965942-44965943	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375762830	chr4:44965951-44965952	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113297679	chr4:44965955-44965956	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79825551	chr4:44965967-44965968	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77534591	chr4:44965969-44965970	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77885855	chr4:44965970-44965971	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570849683	chr4:44965983-44965984	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191142808	chr4:44965984-44965985	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150681515	chr4:44966041-44966042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370454992	chr4:44966062-44966063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139469032	chr4:44966088-44966089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184566556	chr4:44966117-44966118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115039072	chr4:44966123-44966124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533533085	chr4:44966191-44966192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558567607	chr4:44966202-44966203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576763076	chr4:44966223-44966224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544253052	chr4:44966240-44966241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44962600-44966800	Enhancers	HMEC	breast
2	chr4:44963600-44965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:44964600-44965400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:44965400-44966000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:44965400-44966000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:44966000-44967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:44966000-44967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:44966800-44967200	Weak transcription	HMEC	breast
9	chr4:44967200-44968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:44967200-44969400	Enhancers	HMEC	breast
11	chr4:44967400-44967600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:44970200-44971000	Enhancers	Fetal Heart	heart
14	chr4:44975800-44976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:44984200-44984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:44984200-44984400	Enhancers	HMEC	breast
17	chr4:44984400-44984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:44984400-44985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:44984400-44985400	Weak transcription	HMEC	breast
20	chr4:44985200-44986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:44985400-44988000	Enhancers	HMEC	breast
23	chr4:44985800-44986400	Enhancers	Fetal Stomach	stomach
24	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:44987800-44988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:44996800-44997400	Enhancers	HMEC	breast
30	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:45000600-45000800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr4:45006200-45008400	Enhancers	HMEC	breast
36	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:45006400-45006600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:45006400-45006800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr4:45006400-45007200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:45006400-45007400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:45006600-45007400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:45006800-45007400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:45007200-45007400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:45007200-45007400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:45007200-45007400	Enhancers	NH-A	brain
46	chr4:45007400-45012800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:45007400-45012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:45009400-45009800	Enhancers	Fetal Heart	heart

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