Variant report

Variant	esv3333969
Chromosome Location	chr2:76772394-76776892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367999655	chr2:76772399-76772400	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4853258	chr2:76772448-76772449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs542166657	chr2:76772532-76772533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182243269	chr2:76772540-76772541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141656295	chr2:76772574-76772575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147050438	chr2:76772621-76772622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57098716	chr2:76772643-76772644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185482684	chr2:76772747-76772748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539830360	chr2:76772752-76772753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569201428	chr2:76772758-76772759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190243299	chr2:76772766-76772767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551617359	chr2:76772784-76772785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375610884	chr2:76772800-76772801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573229715	chr2:76772802-76772803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534255578	chr2:76772828-76772829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542009002	chr2:76772855-76772856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555602120	chr2:76772894-76772895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567426635	chr2:76772922-76772923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570544523	chr2:76775801-76775802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187684657	chr2:76775836-76775837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147702626	chr2:76775841-76775842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142411336	chr2:76775847-76775848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192636509	chr2:76775856-76775857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112724305	chr2:76775865-76775866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371239841	chr2:76775888-76775889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183591138	chr2:76775897-76775898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556725685	chr2:76775898-76775899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1915040	chr2:76775935-76775936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186817263	chr2:76775998-76775999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560746040	chr2:76776006-76776007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572508351	chr2:76776013-76776014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192820686	chr2:76776064-76776065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561242300	chr2:76776069-76776070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531839822	chr2:76776071-76776072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549968827	chr2:76776072-76776073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565129776	chr2:76776083-76776084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532184531	chr2:76776139-76776140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547319918	chr2:76776173-76776174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565651256	chr2:76776177-76776178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536110181	chr2:76776214-76776215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13398031	chr2:76776249-76776250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371949203	chr2:76776258-76776259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184795272	chr2:76776262-76776263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537189271	chr2:76776335-76776336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558365390	chr2:76776350-76776351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150437278	chr2:76776367-76776368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190097168	chr2:76776370-76776371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538842803	chr2:76776428-76776429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554373128	chr2:76776434-76776435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572799142	chr2:76776492-76776493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76771000-76772800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:76771800-76772800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:76771800-76773000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:76771800-76773000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:76772000-76772400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:76772200-76772400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:76772400-76773000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:76775800-76776000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:76776000-76807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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