Variant report

Variant	esv3328491
Chromosome Location	chr2:7338275-7338782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7337101..7339316-chr2:7346517..7348557,2	K562	blood:
2	chr2:7334770..7337311-chr2:7337607..7339692,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181823363	chr2:7338285-7338286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544272342	chr2:7338287-7338288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186374756	chr2:7338297-7338298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150793639	chr2:7338310-7338311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377164946	chr2:7338311-7338312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140770998	chr2:7338314-7338315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143675680	chr2:7338318-7338319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148565144	chr2:7338330-7338331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62106505	chr2:7338339-7338340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10538102	chr2:7338343-7338344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556183660	chr2:7338355-7338356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374024847	chr2:7338374-7338375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58814766	chr2:7338377-7338378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59716940	chr2:7338406-7338407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576059606	chr2:7338418-7338419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545154064	chr2:7338425-7338426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10628970	chr2:7338432-7338433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35491045	chr2:7338446-7338447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397940676	chr2:7338456-7338457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61532455	chr2:7338457-7338458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368393717	chr2:7338495-7338496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377215457	chr2:7338496-7338497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572297048	chr2:7338505-7338506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372359661	chr2:7338517-7338518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370408576	chr2:7338551-7338552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61024693	chr2:7338562-7338563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541815728	chr2:7338566-7338567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541328497	chr2:7338575-7338576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78000732	chr2:7338594-7338595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12990105	chr2:7338595-7338596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62106507	chr2:7338623-7338624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201470063	chr2:7338631-7338632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376316413	chr2:7338635-7338636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200605489	chr2:7338638-7338639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377325800	chr2:7338639-7338640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57505869	chr2:7338670-7338671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199633715	chr2:7338671-7338672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560850726	chr2:7338708-7338709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371437280	chr2:7338709-7338710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561205712	chr2:7338719-7338720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529260661	chr2:7338724-7338725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542656738	chr2:7338778-7338779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189403381	chr2:7338779-7338780	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	chr2:7331000-7341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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