Variant report

Variant	esv3338702
Chromosome Location	chr2:77034244-77035242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76772802	chr2:77034279-77034280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187189748	chr2:77034325-77034326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143683199	chr2:77034360-77034361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146789264	chr2:77034361-77034362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534165934	chr2:77034373-77034374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140458175	chr2:77034386-77034387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574095690	chr2:77034388-77034389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202201400	chr2:77034464-77034465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67091611	chr2:77034465-77034466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556184860	chr2:77034466-77034467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200287880	chr2:77034468-77034469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72919678	chr2:77034505-77034506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72365054	chr2:77034509-77034510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199899319	chr2:77034524-77034525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7560540	chr2:77034526-77034527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7574473	chr2:77034527-77034528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7560323	chr2:77034533-77034534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201823083	chr2:77034534-77034535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7574478	chr2:77034539-77034540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13410040	chr2:77034549-77034550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368842956	chr2:77034551-77034552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72421749	chr2:77034552-77034553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376026235	chr2:77034553-77034554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370485197	chr2:77034555-77034556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199795965	chr2:77034561-77034562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs70939835	chr2:77034562-77034563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371747340	chr2:77034563-77034564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375172177	chr2:77034564-77034565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372745798	chr2:77034571-77034572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181031637	chr2:77034583-77034584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62172135	chr2:77034585-77034586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62172136	chr2:77034595-77034596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545039725	chr2:77034597-77034598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143367668	chr2:77034598-77034599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190001667	chr2:77034599-77034600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111512293	chr2:77034602-77034603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544913687	chr2:77034613-77034614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182587500	chr2:77034615-77034616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116214630	chr2:77034665-77034666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201383788	chr2:77034684-77034685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374096896	chr2:77034714-77034715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541996994	chr2:77034719-77034720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571835548	chr2:77034754-77034755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542330352	chr2:77034762-77034763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554016038	chr2:77034775-77034776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139235738	chr2:77034776-77034777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111233814	chr2:77034811-77034812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372603189	chr2:77034830-77034831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531211448	chr2:77034842-77034843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140593639	chr2:77034880-77034881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77009000-77039000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:77009600-77038200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:77035000-77037000	Enhancers	Fetal Lung	lung
4	chr2:77035200-77035400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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