Variant report

Variant	esv3443307
Chromosome Location	chr2:33955448-33957296
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	CEBPB	chr2:33956627-33956689	K562	blood:	n/a	n/a
2	MAFF	chr2:33955908-33956237	HepG2	liver:	n/a	chr2:33956091-33956109 chr2:33956090-33956104
3	MAFF	chr2:33955911-33956210	K562	blood:	n/a	chr2:33956091-33956109 chr2:33956090-33956104
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	MAZ	chr2:33955420-33955448	GM12878	blood:	n/a	n/a
12	MXI1	chr2:33955456-33955467	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MYADML	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577672950	chr2:33955456-33955457	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs149574418	chr2:33955462-33955463	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs555685080	chr2:33955487-33955488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559941841	chr2:33955571-33955572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573872835	chr2:33955582-33955583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11692060	chr2:33955585-33955586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562654678	chr2:33955590-33955591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529035737	chr2:33955625-33955626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531508821	chr2:33955629-33955630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551620279	chr2:33955632-33955633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564564754	chr2:33955638-33955639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11325978	chr2:33955659-33955660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533310159	chr2:33955668-33955669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546961048	chr2:33955669-33955670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566784379	chr2:33955685-33955686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536122174	chr2:33955705-33955706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375077192	chr2:33955707-33955708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113408098	chr2:33955712-33955713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200776083	chr2:33955716-33955717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7589306	chr2:33955719-33955720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538008622	chr2:33955720-33955721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143455923	chr2:33955721-33955722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577665906	chr2:33955742-33955743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533691983	chr2:33955763-33955764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544748569	chr2:33955767-33955768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553713111	chr2:33955772-33955773	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs115066624	chr2:33955779-33955780	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs189407388	chr2:33955781-33955782	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs527324679	chr2:33955806-33955807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182248177	chr2:33955814-33955815	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs576415629	chr2:33955842-33955843	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs545218767	chr2:33955917-33955918	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187132423	chr2:33955950-33955951	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs74262211	chr2:33956003-33956004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs7592375	chr2:33956103-33956104	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7565971	chr2:33956122-33956123	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs141174454	chr2:33956130-33956131	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369653950	chr2:33956131-33956132	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs529215457	chr2:33956148-33956149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs548974725	chr2:33956169-33956170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566665340	chr2:33956176-33956177	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539120236	chr2:33956199-33956200	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs189571045	chr2:33956223-33956224	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373537767	chr2:33956230-33956231	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372719066	chr2:33956244-33956245	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs57923212	chr2:33956245-33956246	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs59957088	chr2:33956247-33956248	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs375733751	chr2:33956256-33956257	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs61272451	chr2:33956258-33956259	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs530434812	chr2:33956282-33956283	Weak transcription	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33955000-33955800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:33955200-33955600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:33955200-33955800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:33955400-33955800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:33955400-33955800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:33955800-33960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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