Variant report

Variant	esv3356103
Chromosome Location	chr2:7356968-7357423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7355894..7358751-chr2:7359246..7361556,2	K562	blood:
2	chr2:7356720..7358394-chr2:7363396..7365011,2	MCF-7	breast:
3	chr2:7351513..7354942-chr2:7355238..7358059,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554074638	chr2:7356968-7356969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573968789	chr2:7357000-7357001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542972285	chr2:7357017-7357018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562061276	chr2:7357116-7357117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149607090	chr2:7357162-7357163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78209171	chr2:7357197-7357198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544341267	chr2:7357206-7357207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564609711	chr2:7357226-7357227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77201963	chr2:7357247-7357248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11680346	chr2:7357264-7357265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs72770010	chr2:7357273-7357274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192897090	chr2:7357275-7357276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560339215	chr2:7357282-7357283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561600664	chr2:7357307-7357308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201899120	chr2:7357337-7357338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553570732	chr2:7357339-7357340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184915769	chr2:7357363-7357364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4306689	chr2:7357384-7357385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376230774	chr2:7357403-7357404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529538844	chr2:7357423-7357424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7350400-7365400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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