Variant report

Variant	nsv979328
Chromosome Location	chr2:34015917-34022432
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	chr2:34016725-34017098	IMR90	lung:	n/a	n/a
2	CEBPB	chr2:34016736-34017067	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr2:34016775-34017034	A549	lung:	n/a	n/a
4	CEBPB	chr2:34016763-34016978	HepG2	liver:	n/a	n/a
5	CTCF	chr2:34017960-34018110	GM12868	blood:	n/a	n/a
6	CTCF	chr2:34019448-34019531	GM13977	blood:	n/a	n/a
7	E2F4	chr2:34016802-34016986	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr2:34016722-34017083	MCF10A-Er-Src	breast:	n/a	chr2:34016888-34016898 chr2:34016885-34016896 chr2:34016889-34016897 chr2:34016888-34016898 chr2:34016887-34016899
9	FOS	chr2:34016724-34017084	MCF10A-Er-Src	breast:	n/a	chr2:34016888-34016898 chr2:34016885-34016896 chr2:34016889-34016897 chr2:34016888-34016898 chr2:34016887-34016899
10	FOS	chr2:34016723-34017123	MCF10A-Er-Src	breast:	n/a	chr2:34016888-34016898 chr2:34016885-34016896 chr2:34016889-34016897 chr2:34016888-34016898 chr2:34016887-34016899
11	FOS	chr2:34016709-34017086	MCF10A-Er-Src	breast:	n/a	chr2:34016888-34016898 chr2:34016885-34016896 chr2:34016889-34016897 chr2:34016888-34016898 chr2:34016887-34016899
12	MAFF	chr2:34016780-34017007	HepG2	liver:	n/a	chr2:34016887-34016905
13	MAFK	chr2:34016736-34017020	IMR90	lung:	n/a	chr2:34016892-34016903 chr2:34016890-34016899 chr2:34016888-34016904 chr2:34016888-34016903
14	MAFK	chr2:34016778-34016952	HepG2	liver:	n/a	chr2:34016892-34016903 chr2:34016890-34016899 chr2:34016888-34016904 chr2:34016888-34016903
15	MAFK	chr2:34016793-34016947	HepG2	liver:	n/a	chr2:34016892-34016903 chr2:34016890-34016899 chr2:34016888-34016904 chr2:34016888-34016903
16	MYC	chr2:34016753-34017083	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr2:34016743-34017041	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr2:34021090-34021222	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr2:34016680-34016875	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr2:34016950-34017020	A549	lung:	n/a	n/a
21	STAT3	chr2:34016692-34017062	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr2:34016783-34017088	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr2:34016769-34017058	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr2:34016772-34017096	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34008516..34010441-chr2:34014849..34016681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264267	TF binding region

Extended variants
information (count: 386 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372696509	chr2:34015984-34015985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1403217	chr2:34016004-34016005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192751914	chr2:34016012-34016013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552053433	chr2:34016017-34016018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115053434	chr2:34016074-34016075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561056773	chr2:34016094-34016095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34463121	chr2:34016108-34016109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543643636	chr2:34016133-34016134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533948028	chr2:34016139-34016140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36049156	chr2:34016180-34016181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184209668	chr2:34016198-34016199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551468197	chr2:34016225-34016226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565309397	chr2:34016256-34016257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527974773	chr2:34016268-34016269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567402405	chr2:34016297-34016298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547723911	chr2:34016298-34016299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546914598	chr2:34016340-34016341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538385001	chr2:34016373-34016374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189369073	chr2:34016398-34016399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536421590	chr2:34016402-34016403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550365700	chr2:34016417-34016418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36091338	chr2:34016431-34016432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181385613	chr2:34016445-34016446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375080478	chr2:34016458-34016459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560810017	chr2:34016494-34016495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572114873	chr2:34016495-34016496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534608761	chr2:34016496-34016497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554855959	chr2:34016498-34016499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528005599	chr2:34016512-34016513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574803133	chr2:34016531-34016532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143968298	chr2:34016548-34016549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557153964	chr2:34016555-34016556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114599781	chr2:34016607-34016608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185670541	chr2:34016634-34016635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139858062	chr2:34016636-34016637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368315622	chr2:34016648-34016649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189262214	chr2:34016649-34016650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75361273	chr2:34016703-34016704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561213207	chr2:34016704-34016705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530361173	chr2:34016705-34016706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143233988	chr2:34016711-34016712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146732633	chr2:34016712-34016713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532101181	chr2:34016723-34016724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140317846	chr2:34016739-34016740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78429550	chr2:34016741-34016742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534570812	chr2:34016762-34016763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554618293	chr2:34016798-34016799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142704312	chr2:34016809-34016810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537379728	chr2:34016828-34016829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531832982	chr2:34016833-34016834	Weak transcription 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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34013400-34021000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:34015600-34017200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:34017200-34021000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:34021000-34021600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:34021000-34021800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:34021000-34021800	Enhancers	Fetal Heart	heart
7	chr2:34021000-34022200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:34021600-34027400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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