Variant report

Variant	nsv432595
Chromosome Location	chr4:44951672-45010972
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	chr4:44952933-44953149	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:45001939-45002041	H1-hESC	embryonic stem cell:	n/a	chr4:45001952-45001963
3	CEBPB	chr4:45001825-45002129	HepG2	liver:	n/a	chr4:45001952-45001963
4	CTCF	chr4:44970180-44970330	BE2_C	brain:	n/a	n/a
5	CTCF	chr4:44988162-44988262	MCF-7	breast:	n/a	n/a
6	CTCF	chr4:44970060-44970210	GM12866	blood:	n/a	n/a
7	CTCF	chr4:44988100-44988250	HMEC	breast:	n/a	n/a
8	CTCF	chr4:44988162-44988263	NHEK	skin:	n/a	n/a
9	CTCF	chr4:44970400-44970550	BE2_C	brain:	n/a	n/a
10	CTCF	chr4:44988146-44988265	MCF-7	breast:	n/a	n/a
11	CTCF	chr4:44970220-44970370	GM12872	blood:	n/a	n/a
12	CTCF	chr4:44970140-44970290	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr4:44970400-44970550	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr4:44988171-44988233	LNCaP	prostate:	n/a	n/a
15	CTCF	chr4:44984357-44984405	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:44984356-44984406	LNCaP	prostate:	n/a	n/a
17	CTCF	chr4:44992280-44992430	GM12869	blood:	n/a	n/a
18	CTCF	chr4:44970080-44970230	RPTEC	kidney:	n/a	n/a
19	CTCF	chr4:44970060-44970350	RPTEC	kidney:	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	chr4:44987852-44988257	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:44985188-44985610	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:44963412-44963977	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr4:44987921-44988267	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:44986129-44986329	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:44986181-44986443	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:44987911-44988351	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	chr4:44987850-44988275	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:44986157-44986357	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:45006927-45007497	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007447-45007459 chr4:45007108-45007120
34	FOS	chr4:44985217-44985714	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr4:44963114-44963203	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr4:44985221-44985644	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr4:45006975-45007191	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
38	FOSL2	chr4:44998424-44998653	MCF-7	breast:	n/a	n/a
39	GATA3	chr4:44998161-44998680	MCF-7	breast:	n/a	n/a
40	GATA3	chr4:44998254-44998688	T-47D	breast:	n/a	n/a
41	GATA3	chr4:44998353-44998597	T-47D	breast:	n/a	n/a
42	GATA3	chr4:44998170-44998654	MCF-7	breast:	n/a	n/a
43	GATA3	chr4:44998187-44998696	MCF-7	breast:	n/a	n/a
44	JUND	chr4:44985467-44985714	HepG2	liver:	n/a	chr4:44985581-44985592
45	MAFF	chr4:44987109-44987509	HepG2	liver:	n/a	chr4:44987292-44987310
46	MAFF	chr4:44987123-44987486	K562	blood:	n/a	chr4:44987292-44987310
47	MAFF	chr4:44963016-44963216	HepG2	liver:	n/a	n/a
48	MAFF	chr4:44973416-44973610	HepG2	liver:	n/a	n/a
49	MAFK	chr4:44987043-44987589	GM12878	blood:	n/a	chr4:44987294-44987309
50	MAFK	chr4:44987106-44987494	IMR90	lung:	n/a	chr4:44987294-44987309

No.	Distal block	Cell Line	Cell type
1	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
2	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
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
PRDX4P1	TF binding region
ENSG00000248744	TF binding region

Extended variants
information (count: 2414 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2414 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6828498	chr4:44951697-44951698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544016031	chr4:44951713-44951714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562310773	chr4:44951723-44951724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529610149	chr4:44951736-44951737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138759510	chr4:44951752-44951753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560003297	chr4:44951758-44951759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1390927	chr4:44951828-44951829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs549632780	chr4:44951846-44951847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28440137	chr4:44951899-44951900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568049272	chr4:44951916-44951917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4694791	chr4:44951938-44951939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs71611915	chr4:44951987-44951988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192258142	chr4:44952003-44952004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142746978	chr4:44952011-44952012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549554999	chr4:44952066-44952067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143574139	chr4:44952088-44952089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73244684	chr4:44952091-44952092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553750620	chr4:44952121-44952122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572328464	chr4:44952160-44952161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539041331	chr4:44952181-44952182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557770013	chr4:44952220-44952221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576198952	chr4:44952273-44952274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565627381	chr4:44952300-44952301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141712956	chr4:44952304-44952305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561772213	chr4:44952326-44952327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184090875	chr4:44952392-44952393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541627578	chr4:44952418-44952419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185789643	chr4:44952419-44952420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533706064	chr4:44952481-44952482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114813856	chr4:44952532-44952533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150593503	chr4:44952541-44952542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575603200	chr4:44952607-44952608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139958252	chr4:44952615-44952616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60454037	chr4:44952659-44952660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372026578	chr4:44952672-44952673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567439169	chr4:44952673-44952674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557567976	chr4:44952694-44952695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142795935	chr4:44952695-44952696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375359944	chr4:44952714-44952715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532375413	chr4:44952747-44952748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190644288	chr4:44952750-44952751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146056102	chr4:44952784-44952785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539765434	chr4:44952791-44952792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369495775	chr4:44952797-44952798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569626366	chr4:44952843-44952844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10032383	chr4:44952873-44952874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182948320	chr4:44952887-44952888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186894036	chr4:44952892-44952893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17608406	chr4:44952894-44952895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556078015	chr4:44952936-44952937	Weak transcription	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44930000-44959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:44959200-44959800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:44959400-44959800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:44959400-44959800	Enhancers	HMEC	breast
5	chr4:44959800-44962200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:44959800-44963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:44962200-44963000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:44962600-44966800	Enhancers	HMEC	breast
9	chr4:44963000-44964600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:44963200-44963600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:44963400-44964400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:44963600-44964400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:44963600-44965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:44964600-44965400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:44965400-44966000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:44965400-44966000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:44966000-44967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:44966000-44967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:44966800-44967200	Weak transcription	HMEC	breast
20	chr4:44967200-44968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:44967200-44969400	Enhancers	HMEC	breast
22	chr4:44967400-44967600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:44970200-44971000	Enhancers	Fetal Heart	heart
25	chr4:44975800-44976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:44984200-44984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:44984200-44984400	Enhancers	HMEC	breast
28	chr4:44984400-44984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:44984400-44985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:44984400-44985400	Weak transcription	HMEC	breast
31	chr4:44985200-44986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:44985400-44988000	Enhancers	HMEC	breast
34	chr4:44985800-44986400	Enhancers	Fetal Stomach	stomach
35	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:44987800-44988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:44996800-44997400	Enhancers	HMEC	breast
41	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:45000600-45000800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr4:45006200-45008400	Enhancers	HMEC	breast
47	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:45006400-45006600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:45006400-45006800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:45006400-45007200	Enhancers	HUES6 Cell Line	embryonic stem cell

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