Variant report

Variant	esv3354278
Chromosome Location	chr2:37744348-37745996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529179854	chr2:37744358-37744359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184927955	chr2:37744369-37744370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116248384	chr2:37744431-37744432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532761639	chr2:37744438-37744439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551516259	chr2:37744488-37744489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115323512	chr2:37744503-37744504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537667855	chr2:37744564-37744565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549592716	chr2:37744590-37744591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532948464	chr2:37744591-37744592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535333349	chr2:37744594-37744595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377105391	chr2:37744598-37744599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553365267	chr2:37744617-37744618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189690004	chr2:37744671-37744672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80077180	chr2:37744676-37744677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151138521	chr2:37744713-37744714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72868539	chr2:37744740-37744741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575332258	chr2:37744765-37744766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140413838	chr2:37744770-37744771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114516657	chr2:37744776-37744777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560089483	chr2:37744802-37744803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573708082	chr2:37744854-37744855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577793893	chr2:37744895-37744896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541339044	chr2:37744898-37744899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559349365	chr2:37744903-37744904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532978028	chr2:37744950-37744951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565605825	chr2:37744951-37744952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544996694	chr2:37744955-37744956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183451013	chr2:37744981-37744982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200557622	chr2:37745006-37745007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368456328	chr2:37745032-37745033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71660669	chr2:37745056-37745057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71398235	chr2:37745077-37745078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111043386	chr2:37745088-37745089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530610296	chr2:37745098-37745099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71398236	chr2:37745148-37745149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549056336	chr2:37745173-37745174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111278914	chr2:37745190-37745191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397984324	chr2:37745202-37745203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567873043	chr2:37745291-37745292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528645289	chr2:37745307-37745308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547308197	chr2:37745323-37745324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571828454	chr2:37745359-37745360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567654924	chr2:37745404-37745405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538694638	chr2:37745433-37745434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556927586	chr2:37745508-37745509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568872749	chr2:37745512-37745513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536350677	chr2:37745534-37745535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78874554	chr2:37745567-37745568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186180445	chr2:37745578-37745579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35414311	chr2:37745606-37745607	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37742800-37744600	Enhancers	Rectal Smooth Muscle	rectum
2	chr2:37743200-37749000	Weak transcription	Fetal Heart	heart
3	chr2:37744600-37751200	Weak transcription	Psoas Muscle	Psoas

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