Variant report

Variant	esv2763861
Chromosome Location	chr4:44964479-45011262
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	chr4:44988162-44988262	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:44970400-44970550	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr4:44988171-44988233	LNCaP	prostate:	n/a	n/a
7	CTCF	chr4:44970060-44970350	RPTEC	kidney:	n/a	n/a
8	CTCF	chr4:44992280-44992430	GM12869	blood:	n/a	n/a
9	CTCF	chr4:44970080-44970230	RPTEC	kidney:	n/a	n/a
10	CTCF	chr4:44970220-44970370	GM12872	blood:	n/a	n/a
11	CTCF	chr4:44984357-44984405	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr4:44970400-44970550	BE2_C	brain:	n/a	n/a
13	CTCF	chr4:44988146-44988265	MCF-7	breast:	n/a	n/a
14	CTCF	chr4:44984356-44984406	LNCaP	prostate:	n/a	n/a
15	CTCF	chr4:44970060-44970210	GM12866	blood:	n/a	n/a
16	CTCF	chr4:44988162-44988263	NHEK	skin:	n/a	n/a
17	CTCF	chr4:44970140-44970290	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr4:44988100-44988250	HMEC	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	chr4:44987852-44988257	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:44985217-44985714	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:44985221-44985644	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:44985188-44985610	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr4:45006927-45007497	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007447-45007459 chr4:45007108-45007120
27	FOS	chr4:45006975-45007191	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
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	chr4:44987921-44988267	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr4:44987850-44988275	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:45006934-45007248	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
33	FOS	chr4:44986129-44986329	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:44986157-44986357	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL2	chr4:44998424-44998653	MCF-7	breast:	n/a	n/a
36	GATA3	chr4:44998170-44998654	MCF-7	breast:	n/a	n/a
37	GATA3	chr4:44998187-44998696	MCF-7	breast:	n/a	n/a
38	GATA3	chr4:44998353-44998597	T-47D	breast:	n/a	n/a
39	GATA3	chr4:44998254-44998688	T-47D	breast:	n/a	n/a
40	GATA3	chr4:44998161-44998680	MCF-7	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	chr4:44987109-44987509	HepG2	liver:	n/a	chr4:44987292-44987310
44	MAFF	chr4:44973416-44973610	HepG2	liver:	n/a	n/a
45	MAFK	chr4:44987106-44987494	IMR90	lung:	n/a	chr4:44987294-44987309
46	MAFK	chr4:44973385-44973604	HepG2	liver:	n/a	chr4:44973465-44973480
47	MAFK	chr4:44987127-44987487	Hela-S3	cervix:	n/a	chr4:44987294-44987309
48	MAFK	chr4:44987114-44987492	HepG2	liver:	n/a	chr4:44987294-44987309
49	MAFK	chr4:44987109-44987512	HepG2	liver:	n/a	chr4:44987294-44987309
50	MAFK	chr4:44987091-44987493	H1-hESC	embryonic stem cell:	n/a	chr4:44987294-44987309

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

Variant related genes	Relation type
ENSG00000248744	TF binding region

Extended variants
information (count: 1846 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1846 , 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	rs560634629	chr4:44964485-44964486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116651880	chr4:44964502-44964503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145423734	chr4:44964558-44964559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9291257	chr4:44964574-44964575	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369599534	chr4:44964586-44964587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28415060	chr4:44964602-44964603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35186827	chr4:44964624-44964625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550963136	chr4:44964648-44964649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28396281	chr4:44964660-44964661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558405528	chr4:44964686-44964687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148068965	chr4:44964687-44964688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576852593	chr4:44964693-44964694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566964748	chr4:44964731-44964732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28419289	chr4:44964732-44964733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552087118	chr4:44964763-44964764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373199811	chr4:44964768-44964769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140877022	chr4:44964795-44964796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577880297	chr4:44964833-44964834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538851472	chr4:44964865-44964866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574085493	chr4:44964866-44964867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556955600	chr4:44964869-44964870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541486813	chr4:44964895-44964896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183248969	chr4:44964899-44964900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559625328	chr4:44964926-44964927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1908807	chr4:44964929-44964930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs150414409	chr4:44964942-44964943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1908806	chr4:44964953-44964954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540489898	chr4:44964977-44964978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188811499	chr4:44964993-44964994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539906761	chr4:44965001-44965002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564031216	chr4:44965009-44965010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564659893	chr4:44965018-44965019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138147764	chr4:44965022-44965023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75266349	chr4:44965032-44965033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563028672	chr4:44965159-44965160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530468211	chr4:44965193-44965194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531463137	chr4:44965216-44965217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143793793	chr4:44965251-44965252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535930297	chr4:44965265-44965266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556144546	chr4:44965281-44965282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146579692	chr4:44965282-44965283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191658958	chr4:44965303-44965304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1390925	chr4:44965317-44965318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73244689	chr4:44965336-44965337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139110429	chr4:44965459-44965460	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547450641	chr4:44965507-44965508	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557162124	chr4:44965508-44965509	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565664081	chr4:44965511-44965512	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1390924	chr4:44965514-44965515	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536500025	chr4:44965518-44965519	ZNF genes & repeats 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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44962600-44966800	Enhancers	HMEC	breast
2	chr4:44963000-44964600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:44963600-44965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:44964600-44965400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:44965400-44966000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:44965400-44966000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:44966000-44967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:44966000-44967400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:44966800-44967200	Weak transcription	HMEC	breast
10	chr4:44967200-44968000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:44967200-44969400	Enhancers	HMEC	breast
12	chr4:44967400-44967600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:44970200-44971000	Enhancers	Fetal Heart	heart
15	chr4:44975800-44976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:44984200-44984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:44984200-44984400	Enhancers	HMEC	breast
18	chr4:44984400-44984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:44984400-44985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:44984400-44985400	Weak transcription	HMEC	breast
21	chr4:44985200-44986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:44985400-44988000	Enhancers	HMEC	breast
24	chr4:44985800-44986400	Enhancers	Fetal Stomach	stomach
25	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:44987800-44988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:44996800-44997400	Enhancers	HMEC	breast
31	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:45000600-45000800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr4:45006200-45008400	Enhancers	HMEC	breast
37	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:45006400-45006600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:45006400-45006800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:45006400-45007200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr4:45006400-45007400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:45006600-45007400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:45006800-45007400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:45007200-45007400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr4:45007200-45007400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:45007200-45007400	Enhancers	NH-A	brain
47	chr4:45007400-45012800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:45007400-45012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:45009400-45009800	Enhancers	Fetal Heart	heart

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