Variant report

Variant	nsv829449
Chromosome Location	chr2:67320439-67334450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 276 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183868866	chr2:67320447-67320448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559078124	chr2:67320460-67320461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188815352	chr2:67320483-67320484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141140195	chr2:67320494-67320495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190996817	chr2:67320497-67320498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574486683	chr2:67320633-67320634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182349768	chr2:67320674-67320675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552067571	chr2:67320681-67320682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6748553	chr2:67320714-67320715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186920872	chr2:67320756-67320757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376845315	chr2:67320777-67320778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72825810	chr2:67320779-67320780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191822757	chr2:67320787-67320788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184045773	chr2:67320809-67320810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187267625	chr2:67320830-67320831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78435251	chr2:67320874-67320875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544293964	chr2:67320878-67320879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560993744	chr2:67320879-67320880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201547865	chr2:67320918-67320919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529698895	chr2:67320925-67320926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192904312	chr2:67320929-67320930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566495901	chr2:67320931-67320932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532793070	chr2:67320983-67320984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567364993	chr2:67321018-67321019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569422621	chr2:67321071-67321072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538100811	chr2:67321072-67321073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373753670	chr2:67321121-67321122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185521506	chr2:67321155-67321156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112710667	chr2:67321167-67321168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534052631	chr2:67321200-67321201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13397289	chr2:67321213-67321214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190544143	chr2:67321230-67321231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147515784	chr2:67321303-67321304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547562696	chr2:67321304-67321305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549975345	chr2:67321315-67321316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538916093	chr2:67321316-67321317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553230652	chr2:67321345-67321346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74263124	chr2:67321349-67321350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374056652	chr2:67321490-67321491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368362343	chr2:67321504-67321505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180814293	chr2:67321505-67321506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544113523	chr2:67321506-67321507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144079310	chr2:67321508-67321509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561082348	chr2:67321532-67321533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529070329	chr2:67321538-67321539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116476281	chr2:67321549-67321550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115807272	chr2:67321568-67321569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145213277	chr2:67321593-67321594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552830690	chr2:67321596-67321597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375523146	chr2:67321621-67321622	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:14 , 50 per page) page: 1

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

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