Variant report

Variant	esv3459599
Chromosome Location	chr2:67319023-67334625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:67298780..67301442-chr2:67330726..67332237,2	K562	blood:
2	chr2:67322675..67325580-chr2:67328570..67330772,2	MCF-7	breast:
3	chr2:67322675..67325580-chr2:67328570..67330772,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETAA1-15	chr2:67323915-67323997	NONHSAT071260
2	lnc-ETAA1-15	chr2:67324948-67325210	NONHSAT071260

Extended variants
information (count: 328 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573476986	chr2:67319055-67319056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543248149	chr2:67319058-67319059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545515285	chr2:67319059-67319060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57035035	chr2:67319066-67319067	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575533331	chr2:67319074-67319075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544627906	chr2:67319096-67319097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56291350	chr2:67319133-67319134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529122247	chr2:67319159-67319160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112437229	chr2:67319181-67319182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146985310	chr2:67319188-67319189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559078658	chr2:67319227-67319228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147601905	chr2:67319235-67319236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149071174	chr2:67319301-67319302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571357138	chr2:67319333-67319334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536764737	chr2:67319415-67319416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561416988	chr2:67319475-67319476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181551741	chr2:67319497-67319498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536907969	chr2:67319592-67319593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143073192	chr2:67319645-67319646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553744152	chr2:67319664-67319665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567067109	chr2:67319727-67319728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539264756	chr2:67319778-67319779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36121746	chr2:67319801-67319802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558766339	chr2:67319811-67319812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575658845	chr2:67319816-67319817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75942643	chr2:67319831-67319832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78797872	chr2:67319907-67319908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76251184	chr2:67319909-67319910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79719461	chr2:67319910-67319911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554900498	chr2:67319935-67319936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185969845	chr2:67319942-67319943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542502015	chr2:67319946-67319947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113170920	chr2:67319977-67319978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528247494	chr2:67320012-67320013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545156403	chr2:67320063-67320064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561514701	chr2:67320066-67320067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564957263	chr2:67320071-67320072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144354518	chr2:67320102-67320103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530583379	chr2:67320182-67320183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550414571	chr2:67320232-67320233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371210021	chr2:67320242-67320243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368625937	chr2:67320253-67320254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372929783	chr2:67320283-67320284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567263387	chr2:67320288-67320289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375503796	chr2:67320289-67320290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547293516	chr2:67320291-67320292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567206265	chr2:67320346-67320347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183868866	chr2:67320447-67320448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559078124	chr2:67320460-67320461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188815352	chr2:67320483-67320484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67313000-67323400	Weak transcription	Fetal Kidney	kidney
2	chr2:67317400-67319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:67322000-67323800	Enhancers	Fetal Lung	lung
4	chr2:67322200-67323200	Enhancers	Fetal Stomach	stomach
5	chr2:67322200-67324200	Enhancers	Colon Smooth Muscle	Colon
6	chr2:67322200-67324200	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:67323400-67324200	Enhancers	Fetal Kidney	kidney
8	chr2:67324200-67326200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:67324200-67326400	Weak transcription	Fetal Kidney	kidney
10	chr2:67324200-67326600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:67326200-67327200	Enhancers	Colon Smooth Muscle	Colon
12	chr2:67326600-67326800	Enhancers	Fetal Kidney	kidney
13	chr2:67326600-67327000	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:67334000-67334200	Enhancers	Fetal Lung	lung
15	chr2:67334200-67334800	Weak transcription	Fetal Lung	lung

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