Variant report

Variant	nsv949711
Chromosome Location	chr9:6994399-7045058
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	ATF1	chr9:7011743-7011938	K562	blood:	n/a	n/a
2	CEBPB	chr9:7001595-7001907	K562	blood:	n/a	chr9:7001766-7001783 chr9:7001769-7001782
3	CEBPB	chr9:7042171-7042626	K562	blood:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
4	CEBPB	chr9:7001647-7001868	IMR90	lung:	n/a	chr9:7001766-7001783 chr9:7001769-7001782
5	CEBPB	chr9:7042178-7042526	H1-hESC	embryonic stem cell:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
6	CEBPB	chr9:7042244-7042559	ECC-1	luminal epithelium:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
7	CEBPB	chr9:7042160-7042593	MCF-7	breast:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
8	CEBPB	chr9:7042168-7042550	HepG2	liver:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
9	CEBPB	chr9:7042180-7042541	A549	lung:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
10	CEBPB	chr9:7042060-7042598	A549	lung:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
11	CEBPB	chr9:7042051-7042551	Hela-S3	cervix:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
12	CEBPB	chr9:7042175-7042483	MCF-7	breast:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
13	CEBPB	chr9:7042171-7042552	IMR90	lung:	n/a	chr9:7042358-7042367 chr9:7042356-7042367 chr9:7042356-7042369 chr9:7042358-7042367 chr9:7042358-7042367 chr9:7042356-7042369
14	CHD2	chr9:7006711-7006764	GM12878	blood:	n/a	n/a
15	CTCF	chr9:7044540-7044690	GM12867	blood:	n/a	n/a
16	CTCF	chr9:7037501-7037809	GM12878	blood:	n/a	n/a
17	CTCF	chr9:7008040-7008190	GM12871	blood:	n/a	n/a
18	CTCF	chr9:7027600-7027750	GM12866	blood:	n/a	n/a
19	E2F4	chr9:7014900-7015160	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr9:7009393-7009858	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr9:7009268-7009280	GM12878	blood:	n/a	n/a
22	FAM48A	chr9:7000681-7000765	GM12878	blood:	n/a	n/a
23	FAM48A	chr9:7014453-7014484	GM12878	blood:	n/a	n/a
24	FOS	chr9:7042113-7042493	MCF10A-Er-Src	breast:	n/a	chr9:7042444-7042453
25	FOS	chr9:7042088-7042490	MCF10A-Er-Src	breast:	n/a	chr9:7042444-7042453
26	FOS	chr9:7037767-7038051	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr9:6997657-6997660	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr9:7042192-7042471	MCF10A-Er-Src	breast:	n/a	chr9:7042444-7042453
29	FOS	chr9:7042175-7042479	MCF10A-Er-Src	breast:	n/a	chr9:7042444-7042453
30	FOS	chr9:7037751-7038084	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXA1	chr9:7005352-7005680	HepG2	liver:	n/a	n/a
32	GATA2	chr9:7004772-7005003	SH-SY5Y	brain:	n/a	n/a
33	GATA2	chr9:7018479-7018763	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr9:7000257-7000583	SH-SY5Y	brain:	n/a	chr9:7000439-7000455 chr9:7000439-7000455
35	GATA3	chr9:6999865-7000273	MCF-7	breast:	n/a	n/a
36	GATA3	chr9:7021697-7021894	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr9:7004703-7004936	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr9:6996234-6996333	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr9:7018426-7018647	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr9:7019861-7020157	SH-SY5Y	brain:	n/a	chr9:7020026-7020036
41	GATA3	chr9:7043914-7044114	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr9:7018391-7018743	MCF-7	breast:	n/a	n/a
43	GATA3	chr9:6998016-6998284	SH-SY5Y	brain:	n/a	chr9:6998162-6998170
44	IKZF1	chr9:7011861-7012031	GM12878	blood:	n/a	n/a
45	KAP1	chr9:7009073-7009491	K562	blood:	n/a	n/a
46	MAFF	chr9:6999893-7000155	K562	blood:	n/a	chr9:6999990-7000008
47	MAFF	chr9:7037412-7037590	HepG2	liver:	n/a	chr9:7037463-7037481
48	MAFF	chr9:7033552-7033584	HepG2	liver:	n/a	n/a
49	MAFF	chr9:6999828-7000159	HepG2	liver:	n/a	chr9:6999990-7000008
50	MAFF	chr9:7028047-7028325	K562	blood:	n/a	chr9:7028183-7028201

No.	Distal block	Cell Line	Cell type
1	chr9:7028131..7030409-chr9:7036098..7038098,2	MCF-7	breast:
2	chr9:6986135..6988312-chr9:6992816..6995034,2	MCF-7	breast:
3	chr9:6996659..6998506-chr9:6999056..7001855,2	K562	blood:
4	chr9:7001163..7002731-chr9:7004777..7006309,2	K562	blood:
5	chr9:7001163..7002731-chr9:7004777..7006309,2	K562	blood:
6	chr5:35003633..35004245-chr9:7020432..7021432,2	K562	blood:
7	chr9:7028131..7030409-chr9:7036098..7038098,2	MCF-7	breast:
8	chr9:6996659..6998506-chr9:6999056..7001855,2	K562	blood:

Variant related genes	Relation type
KDM4C	TF binding region

Extended variants
information (count: 2760 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2760 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs818889	chr9:6994399-6994400	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79223039	chr9:6994460-6994461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75644313	chr9:6994462-6994463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150970417	chr9:6994464-6994465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577630692	chr9:6994511-6994512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142070055	chr9:6994525-6994526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551275472	chr9:6994530-6994531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10815504	chr9:6994542-6994543	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576153002	chr9:6994565-6994566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536854007	chr9:6994577-6994578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34559177	chr9:6994579-6994580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553264663	chr9:6994636-6994637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561610541	chr9:6994662-6994663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10815505	chr9:6994684-6994685	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541147249	chr9:6994692-6994693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188057468	chr9:6994709-6994710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532970278	chr9:6994733-6994734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145913302	chr9:6994785-6994786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147828606	chr9:6994799-6994800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370960761	chr9:6994827-6994828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141409633	chr9:6994891-6994892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549589247	chr9:6994928-6994929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180964204	chr9:6994972-6994973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73639491	chr9:6994973-6994974	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs36119900	chr9:6995015-6995016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397757628	chr9:6995017-6995018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199749748	chr9:6995018-6995019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546698717	chr9:6995039-6995040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571260993	chr9:6995040-6995041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34580499	chr9:6995057-6995058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397893550	chr9:6995066-6995067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539069111	chr9:6995070-6995071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557758278	chr9:6995075-6995076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576318454	chr9:6995083-6995084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35711391	chr9:6995141-6995142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200001537	chr9:6995142-6995143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397735434	chr9:6995155-6995156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146960997	chr9:6995166-6995167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375455119	chr9:6995173-6995174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536822243	chr9:6995189-6995190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555569617	chr9:6995214-6995215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115279878	chr9:6995216-6995217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541090107	chr9:6995241-6995242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150383911	chr9:6995243-6995244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577564460	chr9:6995313-6995314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545031863	chr9:6995330-6995331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184703932	chr9:6995341-6995342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531264555	chr9:6995348-6995349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538536247	chr9:6995352-6995353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143193271	chr9:6995353-6995354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Renal cell carcinoma	21215367	CNVD
Cancer	21215367	CNVD

Chromatin state (count:1022 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6954200-6994800	Weak transcription	Gastric	stomach
2	chr9:6956000-6996000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:6972000-7013200	Weak transcription	Fetal Kidney	kidney
4	chr9:6974000-6995000	Weak transcription	HMEC	breast
5	chr9:6974200-6999800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:6975400-6997400	Weak transcription	Fetal Heart	heart
7	chr9:6976200-7011800	Weak transcription	Psoas Muscle	Psoas
8	chr9:6977000-7008200	Strong transcription	Primary B cells from cord blood	blood
9	chr9:6977600-6999200	Strong transcription	Primary T cells from cord blood	blood
10	chr9:6977800-7008200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:6978800-7008200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:6979600-6997800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr9:6979600-6998200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr9:6979600-7008000	Weak transcription	NHEK	skin
15	chr9:6979800-7018600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:6980200-6998000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr9:6980200-7008400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr9:6980800-7004200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:6981000-6997400	Strong transcription	Liver	Liver
20	chr9:6981000-6997800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:6981000-6998200	Strong transcription	Fetal Thymus	thymus
22	chr9:6981400-7008000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:6981400-7011200	Weak transcription	HUVEC	blood vessel
24	chr9:6981600-6997200	Weak transcription	HSMM	muscle
25	chr9:6981600-6999000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr9:6982400-6996200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:6982600-6997600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:6982600-6998800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:6982600-7000200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr9:6982600-7008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:6982600-7008200	Weak transcription	NHLF	lung
32	chr9:6982800-7004200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:6983000-7008600	Weak transcription	Fetal Brain Female	brain
34	chr9:6983400-7010200	Weak transcription	Stomach Mucosa	stomach
35	chr9:6983800-7008200	Weak transcription	A549	lung
36	chr9:6984000-6995200	Weak transcription	Fetal Brain Male	brain
37	chr9:6984000-7018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:6985200-7007800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr9:6985200-7008200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:6985400-6995200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:6985600-6996800	Weak transcription	HSMMtube	muscle
42	chr9:6985600-6997400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:6985600-7008000	Weak transcription	K562	blood
44	chr9:6985600-7008200	Weak transcription	Right Ventricle	heart
45	chr9:6985600-7008400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:6985600-7011200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:6985600-7019200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:6985600-7035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr9:6986200-6996400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr9:6986200-6996600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links