Variant report

Variant	nsv214925
Chromosome Location	chr2:33951155-33959435
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	chr2:33954600-33954631	GM13976	blood:	n/a	n/a
4	EBF1	chr2:33954483-33954634	GM12878	blood:	n/a	chr2:33954507-33954518 chr2:33954523-33954534
5	EGR1	chr2:33951528-33951856	K562	blood:	n/a	n/a
6	EGR1	chr2:33951520-33951849	K562	blood:	n/a	n/a
7	EP300	chr2:33955388-33955402	GM12878	blood:	n/a	n/a
8	FOXP2	chr2:33951468-33951789	SK-N-MC	brain:	n/a	n/a
9	JUN	chr2:33957684-33957789	K562	blood:	n/a	n/a
10	MAFF	chr2:33955911-33956210	K562	blood:	n/a	chr2:33956091-33956109 chr2:33956090-33956104
11	MAFF	chr2:33955908-33956237	HepG2	liver:	n/a	chr2:33956091-33956109 chr2:33956090-33956104
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	MAZ	chr2:33951590-33951849	K562	blood:	n/a	n/a
20	MAZ	chr2:33955420-33955448	GM12878	blood:	n/a	n/a
21	MXI1	chr2:33954882-33954999	GM12878	blood:	n/a	n/a
22	MXI1	chr2:33955456-33955467	GM12878	blood:	n/a	n/a
23	NRF1	chr2:33954694-33954832	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:33955027-33955227	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:33953246-33953295	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:33952279-33952295	MCF-7	breast:	n/a	n/a
27	POLR2A	chr2:33952303-33952356	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:33952409-33952481	MCF-7	breast:	n/a	n/a
29	POLR2A	chr2:33951505-33952191	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr2:33952895-33953063	MCF-7	breast:	n/a	n/a
31	RCOR1	chr2:33951751-33951764	K562	blood:	n/a	n/a
32	TBP	chr2:33954855-33954863	GM12878	blood:	n/a	n/a
33	ZNF384	chr2:33951256-33951718	K562	blood:	n/a	n/a
34	ZNF384	chr2:33958209-33958429	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:33952509-33952559	BE2_C	brain:	n/a
2	chr2:33954043-33954093	GM12891	blood:	n/a
3	chr2:33953437-33953487	SKMC	muscle:	n/a
4	chr2:33951647-33951697	RPTEC	kidney:	n/a
5	chr2:33952423-33952473	PANC-1	pancreas:	n/a
6	chr2:33953370-33953420	HCF	heart:	n/a
7	chr2:33953203-33953253	H1-hESC	embryonic stem cell:	embryo
8	chr2:33954735-33954785	AG09319	gingival:	n/a
9	chr2:33953370-33953420	HAEpiC	amniotic membrane:	n/a
10	chr2:33952488-33952538	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:33952488-33952538	SK-N-MC	brain:	n/a
12	chr2:33953437-33953487	AG09319	gingival:	n/a
13	chr2:33954347-33954397	Jurkat	blood:	n/a
14	chr2:33954043-33954093	CMK	blood:	n/a
15	chr2:33953203-33953253	HPAEpiC	pulmonary alveolar:	n/a
16	chr2:33954043-33954093	BJ	skin:	n/a
17	chr2:33951647-33951697	HNPCEpiC	eye:	n/a
18	chr2:33951647-33951697	HRPEpiC	eye:	n/a
19	chr2:33952423-33952473	HRE	kidney:	n/a
20	chr2:33951647-33951697	HRE	kidney:	n/a
21	chr2:33953370-33953420	HEEpiC	esophagus:	n/a
22	chr2:33952423-33952473	AG09309	skin:	n/a
23	chr2:33952509-33952559	HCM	heart:	n/a
24	chr2:33951647-33951697	HEEpiC	esophagus:	n/a
25	chr2:33953370-33953420	LNCaP	prostate:	n/a
26	chr2:33952673-33952723	GM19239	blood:	n/a
27	chr2:33952509-33952559	T-47D	breast:	n/a
28	chr2:33953437-33953487	BJ	skin:	n/a
29	chr2:33954735-33954785	GM12891	blood:	n/a
30	chr2:33953195-33953245	IMR90	lung:	fetal
31	chr2:33952488-33952538	AG09309	skin:	n/a
32	chr2:33952509-33952559	Caco-2	colon:	n/a
33	chr2:33954043-33954093	T-47D	breast:	n/a
34	chr2:33952423-33952473	HCPEpiC	choroid plexus:	n/a
35	chr2:33954735-33954785	MCF-7	breast:	n/a
36	chr2:33952488-33952538	K562	blood:	n/a
37	chr2:33952488-33952538	HCT-116	colon:	n/a
38	chr2:33951647-33951697	HMEC	breast:	n/a
39	chr2:33952488-33952538	NHDF-neo	bronchial:	n/a
40	chr2:33953370-33953420	SKMC	muscle:	n/a
41	chr2:33952423-33952473	AG10803	skin:	n/a
42	chr2:33953370-33953420	GM12878	blood:	n/a
43	chr2:33953195-33953245	U87	brain:	n/a
44	chr2:33953195-33953245	BJ	skin:	n/a
45	chr2:33954347-33954397	GM19239	blood:	n/a
46	chr2:33953437-33953487	NH-A	brain:	n/a
47	chr2:33953195-33953245	A549	lung:	n/a
48	chr2:33953370-33953420	HepG2	liver:	n/a
49	chr2:33953195-33953245	GM12878	blood:	n/a
50	chr2:33952509-33952559	PFSK-1	brain:	n/a

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

Extended variants
information (count: 317 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539943083	chr2:33951455-33951456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552801849	chr2:33951475-33951476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553393483	chr2:33951478-33951479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10184060	chr2:33951492-33951493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191591582	chr2:33951497-33951498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141819478	chr2:33951508-33951509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184289506	chr2:33951512-33951513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10196645	chr2:33951513-33951514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557929735	chr2:33951524-33951525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146470076	chr2:33951529-33951530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397714251	chr2:33951537-33951538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114331606	chr2:33951557-33951558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34700910	chr2:33951588-33951589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150652031	chr2:33951590-33951591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535049671	chr2:33951597-33951598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374203845	chr2:33952214-33952215	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560968748	chr2:33952233-33952234	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62147525	chr2:33952234-33952235	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114804891	chr2:33952248-33952249	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562523880	chr2:33952253-33952254	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149035002	chr2:33952282-33952283	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551379322	chr2:33952295-33952296	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77831373	chr2:33952333-33952334	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534227695	chr2:33952345-33952346	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72857040	chr2:33952357-33952358	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567804368	chr2:33952366-33952367	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200844409	chr2:33952369-33952370	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192862884	chr2:33952370-33952371	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555955857	chr2:33952376-33952377	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569782501	chr2:33952392-33952393	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538597877	chr2:33952406-33952407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs4477896	chr2:33952413-33952414	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs551575280	chr2:33952415-33952416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541005512	chr2:33952419-33952420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554732196	chr2:33952448-33952449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs574576078	chr2:33952450-33952451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs184673675	chr2:33952451-33952452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2367810	chr2:33952456-33952457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs189037711	chr2:33952463-33952464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544955509	chr2:33952495-33952496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564985168	chr2:33952505-33952506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527978498	chr2:33952516-33952517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547811036	chr2:33952540-33952541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567970646	chr2:33952541-33952542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181542258	chr2:33952542-33952543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs569720890	chr2:33952560-33952561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs76240611	chr2:33952569-33952570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs75990996	chr2:33952584-33952585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565573068	chr2:33952614-33952615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs11684598	chr2:33952621-33952622	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33951400-33951600	Enhancers	K562	blood
2	chr2:33952200-33952400	Enhancers	K562	blood
3	chr2:33952200-33953200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:33952200-33953200	ZNF genes & repeats	Spleen	Spleen
5	chr2:33954800-33955200	Enhancers	GM12878-XiMat	blood
6	chr2:33955000-33955800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:33955200-33955600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:33955200-33955800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:33955400-33955800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:33955400-33955800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:33955800-33960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links