Variant report

Variant	esv1830314
Chromosome Location	chr4:44983899-45023201
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	chr4:44984357-44984405	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:44992280-44992430	GM12869	blood:	n/a	n/a
6	CTCF	chr4:44988162-44988263	NHEK	skin:	n/a	n/a
7	CTCF	chr4:44988100-44988250	HMEC	breast:	n/a	n/a
8	CTCF	chr4:44988171-44988233	LNCaP	prostate:	n/a	n/a
9	CTCF	chr4:44984356-44984406	LNCaP	prostate:	n/a	n/a
10	CTCF	chr4:44988146-44988265	MCF-7	breast:	n/a	n/a
11	CTCF	chr4:44988162-44988262	MCF-7	breast:	n/a	n/a
12	E2F4	chr4:45003167-45003231	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr4:45007075-45007175	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr4:45007061-45007463	GM12878	blood:	n/a	n/a
15	FOS	chr4:44987852-44988257	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:45006975-45007191	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
17	FOS	chr4:44987911-44988351	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr4:45006934-45007248	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
19	FOS	chr4:44987921-44988267	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:45006927-45007497	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007447-45007459 chr4:45007108-45007120
21	FOS	chr4:44986157-44986357	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr4:44987850-44988275	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr4:44986129-44986329	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:44985217-44985714	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:44985221-44985644	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr4:44986181-44986443	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:44985188-44985610	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL2	chr4:44998424-44998653	MCF-7	breast:	n/a	n/a
29	GATA3	chr4:44998254-44998688	T-47D	breast:	n/a	n/a
30	GATA3	chr4:44998353-44998597	T-47D	breast:	n/a	n/a
31	GATA3	chr4:44998161-44998680	MCF-7	breast:	n/a	n/a
32	GATA3	chr4:44998187-44998696	MCF-7	breast:	n/a	n/a
33	GATA3	chr4:44998170-44998654	MCF-7	breast:	n/a	n/a
34	JUND	chr4:44985467-44985714	HepG2	liver:	n/a	chr4:44985581-44985592
35	KAP1	chr4:45023149-45023590	K562	blood:	n/a	n/a
36	MAFF	chr4:44987123-44987486	K562	blood:	n/a	chr4:44987292-44987310
37	MAFF	chr4:44987109-44987509	HepG2	liver:	n/a	chr4:44987292-44987310
38	MAFK	chr4:44987109-44987512	HepG2	liver:	n/a	chr4:44987294-44987309
39	MAFK	chr4:44987043-44987589	GM12878	blood:	n/a	chr4:44987294-44987309
40	MAFK	chr4:44987101-44987484	K562	blood:	n/a	chr4:44987294-44987309
41	MAFK	chr4:44987091-44987493	H1-hESC	embryonic stem cell:	n/a	chr4:44987294-44987309
42	MAFK	chr4:45012771-45012884	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFK	chr4:44987114-44987492	HepG2	liver:	n/a	chr4:44987294-44987309
44	MAFK	chr4:44987127-44987487	Hela-S3	cervix:	n/a	chr4:44987294-44987309
45	MAFK	chr4:44987106-44987494	IMR90	lung:	n/a	chr4:44987294-44987309
46	MAZ	chr4:45023070-45023202	HepG2	liver:	n/a	n/a
47	MXI1	chr4:45022238-45022259	GM12878	blood:	n/a	n/a
48	MXI1	chr4:45006585-45006604	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr4:44985112-44985623	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr4:44985116-44985457	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
2	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248744	TF binding region

Extended variants
information (count: 1527 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570410359	chr4:44984212-44984213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568262477	chr4:44984305-44984306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4235135	chr4:44984309-44984310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544410451	chr4:44984325-44984326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139756898	chr4:44984400-44984401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572415212	chr4:44984428-44984429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546109263	chr4:44984445-44984446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557768124	chr4:44984472-44984473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149834931	chr4:44984502-44984503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6818427	chr4:44984531-44984532	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561592350	chr4:44984541-44984542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75177994	chr4:44984550-44984551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144782182	chr4:44984565-44984566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11946088	chr4:44984653-44984654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559512987	chr4:44984662-44984663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140244026	chr4:44984701-44984702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553084585	chr4:44984742-44984743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186898947	chr4:44984758-44984759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76162245	chr4:44984763-44984764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28452228	chr4:44984816-44984817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530778250	chr4:44984857-44984858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549466393	chr4:44984879-44984880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567606388	chr4:44984880-44984881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535118132	chr4:44984886-44984887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190359842	chr4:44984896-44984897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565864311	chr4:44984911-44984912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376784119	chr4:44984930-44984931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6819444	chr4:44984980-44984981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543701402	chr4:44985011-44985012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6849601	chr4:44985020-44985021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544344108	chr4:44985023-44985024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536599181	chr4:44985027-44985028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528901687	chr4:44985034-44985035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373715675	chr4:44985110-44985111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540756163	chr4:44985128-44985129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182953897	chr4:44985133-44985134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145669313	chr4:44985143-44985144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540711248	chr4:44985196-44985197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577405026	chr4:44985214-44985215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559520024	chr4:44985218-44985219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559551437	chr4:44985242-44985243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533564849	chr4:44985244-44985245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370455894	chr4:44985279-44985280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577788822	chr4:44985284-44985285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6854974	chr4:44985301-44985302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563790139	chr4:44985336-44985337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76130884	chr4:44985343-44985344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186831158	chr4:44985393-44985394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570274380	chr4:44985414-44985415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531065334	chr4:44985418-44985419	Enhancers	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44984200-44984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:44984200-44984400	Enhancers	HMEC	breast
3	chr4:44984400-44984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:44984400-44985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:44984400-44985400	Weak transcription	HMEC	breast
6	chr4:44985200-44986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:44985400-44988000	Enhancers	HMEC	breast
9	chr4:44985800-44986400	Enhancers	Fetal Stomach	stomach
10	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:44987800-44988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:44996800-44997400	Enhancers	HMEC	breast
16	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:45000600-45000800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:45006200-45008400	Enhancers	HMEC	breast
22	chr4:45006200-45008600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:45006400-45006600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:45006400-45006800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:45006400-45007200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:45006400-45007400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:45006600-45007400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:45006800-45007400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:45007200-45007400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:45007200-45007400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:45007200-45007400	Enhancers	NH-A	brain
32	chr4:45007400-45012800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:45007400-45012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:45009400-45009800	Enhancers	Fetal Heart	heart
35	chr4:45012800-45014400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:45012800-45015200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:45013000-45014400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:45013600-45014200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:45013800-45014000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:45015000-45015400	Enhancers	Primary hematopoietic stem cells	blood

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