Variant report

Variant	esv3404597
Chromosome Location	chr2:37746198-37747896
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	chr2:37728444..37730701-chr2:37746195..37748553,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72868540	chr2:37746240-37746241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566829499	chr2:37746262-37746263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191335323	chr2:37746263-37746264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552880285	chr2:37746276-37746277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577869957	chr2:37746293-37746294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185044494	chr2:37746299-37746300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62135577	chr2:37746320-37746321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143595682	chr2:37746342-37746343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542626544	chr2:37746347-37746348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147068768	chr2:37746393-37746394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572841932	chr2:37746400-37746401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540283161	chr2:37746411-37746412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72793802	chr2:37746427-37746428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532541106	chr2:37746433-37746434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547672556	chr2:37746482-37746483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71414263	chr2:37746529-37746530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113151446	chr2:37746539-37746540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112257058	chr2:37746540-37746541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112612055	chr2:37746541-37746542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70949761	chr2:37746549-37746550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112406503	chr2:37746555-37746556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192949257	chr2:37746562-37746563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185094825	chr2:37746563-37746564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs70949762	chr2:37746585-37746586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71249725	chr2:37746601-37746602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189612086	chr2:37746617-37746618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181340312	chr2:37746625-37746626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566992802	chr2:37746626-37746627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534040589	chr2:37746628-37746629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71414264	chr2:37746632-37746633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565723159	chr2:37746636-37746637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs70949763	chr2:37746652-37746653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185465480	chr2:37746653-37746654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188271592	chr2:37746661-37746662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71414265	chr2:37746668-37746669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180714409	chr2:37746671-37746672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187297902	chr2:37746672-37746673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs70949764	chr2:37746688-37746689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192087614	chr2:37746689-37746690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183458757	chr2:37746690-37746691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111206692	chr2:37746699-37746700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190622545	chr2:37746709-37746710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182772237	chr2:37746717-37746718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201503400	chr2:37746729-37746730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187101560	chr2:37746732-37746733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377511058	chr2:37746734-37746735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370393043	chr2:37746735-37746736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374787966	chr2:37746736-37746737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370920111	chr2:37746744-37746745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371487976	chr2:37746745-37746746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37743200-37749000	Weak transcription	Fetal Heart	heart
2	chr2:37744600-37751200	Weak transcription	Psoas Muscle	Psoas

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