Variant report

Variant	nsv873796
Chromosome Location	chr2:33953186-33981501
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	chr2:33954808-33954914	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:33956627-33956689	K562	blood:	n/a	n/a
3	CTCF	chr2:33964183-33964249	GM10248	blood:	n/a	n/a
4	CTCF	chr2:33967634-33967691	GM13976	blood:	n/a	n/a
5	CTCF	chr2:33976115-33976162	GM13976	blood:	n/a	n/a
6	CTCF	chr2:33954600-33954631	GM13976	blood:	n/a	n/a
7	EBF1	chr2:33954483-33954634	GM12878	blood:	n/a	chr2:33954507-33954518 chr2:33954523-33954534
8	EP300	chr2:33965205-33965584	T-47D	breast:	n/a	n/a
9	EP300	chr2:33955388-33955402	GM12878	blood:	n/a	n/a
10	FOXA1	chr2:33965143-33965582	T-47D	breast:	n/a	n/a
11	FOXA1	chr2:33965169-33965564	T-47D	breast:	n/a	n/a
12	GATA3	chr2:33965164-33965543	T-47D	breast:	n/a	n/a
13	GATA3	chr2:33965113-33965592	T-47D	breast:	n/a	n/a
14	JUN	chr2:33957684-33957789	K562	blood:	n/a	n/a
15	MAFF	chr2:33976862-33977068	HepG2	liver:	n/a	chr2:33976952-33976970
16	MAFF	chr2:33955908-33956237	HepG2	liver:	n/a	chr2:33956091-33956109 chr2:33956090-33956104
17	MAFF	chr2:33955911-33956210	K562	blood:	n/a	chr2:33956091-33956109 chr2:33956090-33956104
18	MAFK	chr2:33981191-33981449	HepG2	liver:	n/a	n/a
19	MAFK	chr2:33955910-33956233	HepG2	liver:	n/a	chr2:33956090-33956104 chr2:33956087-33956107 chr2:33956097-33956108 chr2:33956097-33956108 chr2:33956089-33956105 chr2:33956096-33956107 chr2:33956092-33956107
20	MAFK	chr2:33955909-33956239	IMR90	lung:	n/a	chr2:33956090-33956104 chr2:33956087-33956107 chr2:33956097-33956108 chr2:33956097-33956108 chr2:33956089-33956105 chr2:33956096-33956107 chr2:33956092-33956107
21	MAFK	chr2:33955884-33956183	GM12878	blood:	n/a	chr2:33956090-33956104 chr2:33956087-33956107 chr2:33956097-33956108 chr2:33956097-33956108 chr2:33956089-33956105 chr2:33956096-33956107 chr2:33956092-33956107
22	MAFK	chr2:33955909-33956263	HepG2	liver:	n/a	chr2:33956090-33956104 chr2:33956087-33956107 chr2:33956097-33956108 chr2:33956097-33956108 chr2:33956089-33956105 chr2:33956096-33956107 chr2:33956092-33956107
23	MAFK	chr2:33976808-33977109	HepG2	liver:	n/a	chr2:33976953-33976968
24	MAFK	chr2:33955771-33956214	H1-hESC	embryonic stem cell:	n/a	chr2:33956090-33956104 chr2:33956087-33956107 chr2:33956097-33956108 chr2:33956097-33956108 chr2:33956089-33956105 chr2:33956096-33956107 chr2:33956092-33956107
25	MAFK	chr2:33955914-33956243	K562	blood:	n/a	chr2:33956090-33956104 chr2:33956087-33956107 chr2:33956097-33956108 chr2:33956097-33956108 chr2:33956089-33956105 chr2:33956096-33956107 chr2:33956092-33956107
26	MAFK	chr2:33976838-33977079	HepG2	liver:	n/a	chr2:33976953-33976968
27	MAFK	chr2:33981198-33981407	HepG2	liver:	n/a	n/a
28	MAFK	chr2:33955906-33956220	Hela-S3	cervix:	n/a	chr2:33956090-33956104 chr2:33956087-33956107 chr2:33956097-33956108 chr2:33956097-33956108 chr2:33956089-33956105 chr2:33956096-33956107 chr2:33956092-33956107
29	MAFK	chr2:33976859-33977087	IMR90	lung:	n/a	chr2:33976953-33976968
30	MAZ	chr2:33955420-33955448	GM12878	blood:	n/a	n/a
31	MXI1	chr2:33955456-33955467	GM12878	blood:	n/a	n/a
32	MXI1	chr2:33954882-33954999	GM12878	blood:	n/a	n/a
33	MYC	chr2:33962556-33962693	HUVEC	blood vessel:	n/a	n/a
34	NRF1	chr2:33954694-33954832	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:33962228-33962455	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr2:33974621-33975006	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr2:33959497-33959654	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr2:33953246-33953295	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:33955027-33955227	GM12878	blood:	n/a	n/a
40	POLR2A	chr2:33972990-33973132	A549	lung:	n/a	n/a
41	STAT3	chr2:33976917-33977061	MCF10A-Er-Src	breast:	n/a	n/a
42	TBP	chr2:33954855-33954863	GM12878	blood:	n/a	n/a
43	ZNF384	chr2:33958209-33958429	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:33953370-33953420	NHDF-neo	bronchial:	n/a
2	chr2:33953370-33953420	HRCEpiC	kidney:	n/a
3	chr2:33954735-33954785	A549	lung:	n/a
4	chr2:33953203-33953253	AoSMC	blood vessel:	n/a
5	chr2:33953195-33953245	PrEC	prostate:	n/a
6	chr2:33953203-33953253	NHBE	bronchial:	n/a
7	chr2:33954735-33954785	T-47D	breast:	n/a
8	chr2:33953370-33953420	GM12892	blood:	n/a
9	chr2:33954043-33954093	GM12892	blood:	n/a
10	chr2:33953195-33953245	U87	brain:	n/a
11	chr2:33953370-33953420	AG09319	gingival:	n/a
12	chr2:33954347-33954397	HAEpiC	amniotic membrane:	n/a
13	chr2:33954735-33954785	PFSK-1	brain:	n/a
14	chr2:33953370-33953420	Caco-2	colon:	n/a
15	chr2:33954347-33954397	HMEC	breast:	n/a
16	chr2:33953437-33953487	LNCaP	prostate:	n/a
17	chr2:33953437-33953487	HCM	heart:	n/a
18	chr2:33953203-33953253	NH-A	brain:	n/a
19	chr2:33954347-33954397	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:33954043-33954093	HL-60	blood:	n/a
21	chr2:33953195-33953245	IMR90	lung:	fetal
22	chr2:33953195-33953245	HCF	heart:	n/a
23	chr2:33953370-33953420	HCF	heart:	n/a
24	chr2:33953195-33953245	HCM	heart:	n/a
25	chr2:33953203-33953253	GM12878	blood:	n/a
26	chr2:33953437-33953487	K562	blood:	n/a
27	chr2:33953195-33953245	T-47D	breast:	n/a
28	chr2:33954347-33954397	SAEC	small airway:	n/a
29	chr2:33954043-33954093	PrEC	prostate:	n/a
30	chr2:33954043-33954093	Hepatocyte	liver:	n/a
31	chr2:33953370-33953420	HEK293	kidney:	embryo
32	chr2:33953203-33953253	HL-60	blood:	n/a
33	chr2:33954347-33954397	HUVEC	blood vessel:	n/a
34	chr2:33953195-33953245	SKMC	muscle:	n/a
35	chr2:33954347-33954397	PrEC	prostate:	n/a
36	chr2:33953437-33953487	HUVEC	blood vessel:	n/a
37	chr2:33954735-33954785	NHDF-neo	bronchial:	n/a
38	chr2:33954347-33954397	BE2_C	brain:	n/a
39	chr2:33953437-33953487	IMR90	lung:	fetal
40	chr2:33953437-33953487	A549	lung:	n/a
41	chr2:33954735-33954785	SK-N-SH_RA	brain:	n/a
42	chr2:33953437-33953487	HNPCEpiC	eye:	n/a
43	chr2:33954347-33954397	SK-N-SH	brain:	n/a
44	chr2:33954347-33954397	GM06990	blood:	n/a
45	chr2:33953203-33953253	BE2_C	brain:	n/a
46	chr2:33953370-33953420	CMK	blood:	n/a
47	chr2:33954043-33954093	H1-hESC	embryonic stem cell:	embryo
48	chr2:33953203-33953253	IMR90	lung:	fetal
49	chr2:33953203-33953253	H1-hESC	embryonic stem cell:	embryo
50	chr2:33954347-33954397	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33973736..33977470-chr2:33981372..33984191,3	K562	blood:
2	chr2:33973736..33977470-chr2:33981372..33984191,3	K562	blood:

Variant related genes	Relation type
MYADML	TF binding region
MYADML	CpG island

Extended variants
information (count: 288 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7574695	chr2:33953186-33953187	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534354077	chr2:33953194-33953195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs80084020	chr2:33953212-33953213	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs538727152	chr2:33953216-33953217	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs56394321	chr2:33953220-33953221	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs56879821	chr2:33953251-33953252	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs180848357	chr2:33953276-33953277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368565052	chr2:33953281-33953282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs541019632	chr2:33953290-33953291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374815980	chr2:33953370-33953371	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs80037586	chr2:33953397-33953398	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs78501744	chr2:33953398-33953399	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs552821667	chr2:33953468-33953469	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs138043506	chr2:33954043-33954044	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs75261758	chr2:33954067-33954068	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs537402945	chr2:33954093-33954094	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs530522280	chr2:33954350-33954351	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs576037053	chr2:33954354-33954355	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs376785122	chr2:33954380-33954381	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs577488976	chr2:33954534-33954535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs140959469	chr2:33954538-33954539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs12232965	chr2:33954560-33954561	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7585665	chr2:33954745-33954746	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187748717	chr2:33954747-33954748	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs56268021	chr2:33954764-33954765	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570893631	chr2:33954767-33954768	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs192223664	chr2:33954844-33954845	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs553603204	chr2:33954845-33954846	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs7585763	chr2:33954861-33954862	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs78423379	chr2:33954868-33954869	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs370119795	chr2:33954898-33954899	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555586367	chr2:33954976-33954977	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs556551549	chr2:33954997-33954998	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs578208890	chr2:33955008-33955009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6707925	chr2:33955044-33955045	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs563713799	chr2:33955062-33955063	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs541700679	chr2:33955063-33955064	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs185061013	chr2:33955091-33955092	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs560352957	chr2:33955115-33955116	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529178910	chr2:33955116-33955117	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs144892920	chr2:33955138-33955139	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188500506	chr2:33955139-33955140	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192126549	chr2:33955173-33955174	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559999504	chr2:33955188-33955189	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs553728951	chr2:33955191-33955192	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs184173449	chr2:33955211-33955212	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs77055527	chr2:33955231-33955232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138753837	chr2:33955255-33955256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376386416	chr2:33955294-33955295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535812214	chr2:33955329-33955330	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33952200-33953200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:33952200-33953200	ZNF genes & repeats	Spleen	Spleen
3	chr2:33954800-33955200	Enhancers	GM12878-XiMat	blood
4	chr2:33955000-33955800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:33955200-33955600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:33955200-33955800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:33955400-33955800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:33955400-33955800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:33955800-33960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:33960200-33960600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links