Variant report

Variant	nsv878981
Chromosome Location	chr4:44961533-45018583
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	chr4:45001939-45002041	H1-hESC	embryonic stem cell:	n/a	chr4:45001952-45001963
3	CEBPB	chr4:45001825-45002129	HepG2	liver:	n/a	chr4:45001952-45001963
4	CTCF	chr4:44970140-44970290	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr4:44988162-44988263	NHEK	skin:	n/a	n/a
6	CTCF	chr4:44970060-44970350	RPTEC	kidney:	n/a	n/a
7	CTCF	chr4:44992280-44992430	GM12869	blood:	n/a	n/a
8	CTCF	chr4:44970220-44970370	GM12872	blood:	n/a	n/a
9	CTCF	chr4:44988146-44988265	MCF-7	breast:	n/a	n/a
10	CTCF	chr4:44970400-44970550	BE2_C	brain:	n/a	n/a
11	CTCF	chr4:44984357-44984405	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr4:44970080-44970230	RPTEC	kidney:	n/a	n/a
13	CTCF	chr4:44970060-44970210	GM12866	blood:	n/a	n/a
14	CTCF	chr4:44970400-44970550	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr4:44984356-44984406	LNCaP	prostate:	n/a	n/a
16	CTCF	chr4:44988171-44988233	LNCaP	prostate:	n/a	n/a
17	CTCF	chr4:44988162-44988262	MCF-7	breast:	n/a	n/a
18	CTCF	chr4:44970180-44970330	BE2_C	brain:	n/a	n/a
19	CTCF	chr4:44988100-44988250	HMEC	breast:	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	chr4:44985188-44985610	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:44987850-44988275	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr4:44985217-44985714	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr4:44986129-44986329	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr4:45006934-45007248	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007108-45007120
28	FOS	chr4:44963412-44963977	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	chr4:45006927-45007497	MCF10A-Er-Src	breast:	n/a	chr4:45007110-45007118 chr4:45007447-45007459 chr4:45007108-45007120
31	FOS	chr4:44987921-44988267	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr4:44986157-44986357	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr4:44985221-44985644	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:44987911-44988351	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr4:44963114-44963203	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr4:44987852-44988257	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr4:44986181-44986443	MCF10A-Er-Src	breast:	n/a	n/a
38	FOSL2	chr4:44998424-44998653	MCF-7	breast:	n/a	n/a
39	GATA3	chr4:44998170-44998654	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	JUND	chr4:44985467-44985714	HepG2	liver:	n/a	chr4:44985581-44985592
45	MAFF	chr4:44973416-44973610	HepG2	liver:	n/a	n/a
46	MAFF	chr4:44987123-44987486	K562	blood:	n/a	chr4:44987292-44987310
47	MAFF	chr4:44987109-44987509	HepG2	liver:	n/a	chr4:44987292-44987310
48	MAFF	chr4:44963016-44963216	HepG2	liver:	n/a	n/a
49	MAFK	chr4:44981080-44981305	HepG2	liver:	n/a	n/a
50	MAFK	chr4:44973443-44973519	HepG2	liver:	n/a	chr4:44973465-44973480

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

Variant related genes	Relation type
ENSG00000248744	TF binding region

Extended variants
information (count: 2242 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2242 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1111981	chr4:44961533-44961534	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566292516	chr4:44961534-44961535	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115924388	chr4:44961553-44961554	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185382303	chr4:44961571-44961572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570439257	chr4:44961574-44961575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569042829	chr4:44961598-44961599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537424888	chr4:44961613-44961614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28790942	chr4:44961635-44961636	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7673516	chr4:44961667-44961668	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548486341	chr4:44961697-44961698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541861626	chr4:44961735-44961736	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369018817	chr4:44961755-44961756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7656009	chr4:44961778-44961779	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556623248	chr4:44961793-44961794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116792210	chr4:44961818-44961819	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6829560	chr4:44961834-44961835	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532084537	chr4:44961859-44961860	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187784458	chr4:44961878-44961879	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562068902	chr4:44961894-44961895	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550840584	chr4:44961903-44961904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547837363	chr4:44961908-44961909	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191708333	chr4:44961968-44961969	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527464070	chr4:44961991-44961992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371668511	chr4:44962051-44962052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551984337	chr4:44962072-44962073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576773134	chr4:44962165-44962166	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537500807	chr4:44962193-44962194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570400890	chr4:44962199-44962200	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538184231	chr4:44962246-44962247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369908993	chr4:44962253-44962254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555856606	chr4:44962274-44962275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34762599	chr4:44962275-44962276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397974029	chr4:44962281-44962282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556186525	chr4:44962288-44962289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568007442	chr4:44962291-44962292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535120186	chr4:44962296-44962297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553874725	chr4:44962324-44962325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572200135	chr4:44962341-44962342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546411047	chr4:44962393-44962394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558437180	chr4:44962447-44962448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183587923	chr4:44962568-44962569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544051963	chr4:44962594-44962595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7678611	chr4:44962656-44962657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376758927	chr4:44962688-44962689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12642863	chr4:44962692-44962693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188332070	chr4:44962713-44962714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559408559	chr4:44962740-44962741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143910882	chr4:44962761-44962762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551953304	chr4:44962766-44962767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181807123	chr4:44962770-44962771	Weak transcription 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:61 , 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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