Variant report

Variant	nsv517285
Chromosome Location	chr2:78199268-78204327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 216 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1074192	chr2:78199268-78199269	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574225520	chr2:78199284-78199285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541825238	chr2:78199316-78199317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532338468	chr2:78199363-78199364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77040006	chr2:78199385-78199386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530549638	chr2:78199414-78199415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145886976	chr2:78199449-78199450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181704050	chr2:78199460-78199461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530122058	chr2:78199479-78199480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538356068	chr2:78199515-78199516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149006058	chr2:78199518-78199519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546450416	chr2:78199531-78199532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7424923	chr2:78199554-78199555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529157409	chr2:78199565-78199566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549424452	chr2:78199567-78199568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569268969	chr2:78199593-78199594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538385267	chr2:78199601-78199602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558295061	chr2:78199646-78199647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556187441	chr2:78199649-78199650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566834933	chr2:78199660-78199661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367579736	chr2:78199667-78199668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143634397	chr2:78199702-78199703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534429750	chr2:78199704-78199705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1527185	chr2:78199720-78199721	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184983229	chr2:78199721-78199722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1527184	chr2:78199735-78199736	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs570719296	chr2:78199736-78199737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112864662	chr2:78199738-78199739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543757263	chr2:78199739-78199740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142937253	chr2:78199805-78199806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532854227	chr2:78199814-78199815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540452887	chr2:78199824-78199825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76625255	chr2:78199842-78199843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529232795	chr2:78199858-78199859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549287295	chr2:78199878-78199879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569135156	chr2:78199910-78199911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531742201	chr2:78199948-78199949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116556150	chr2:78199978-78199979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556657688	chr2:78200002-78200003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568826975	chr2:78200009-78200010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180902854	chr2:78200018-78200019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74697607	chr2:78200043-78200044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs207461905	chr2:78200062-78200063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542774386	chr2:78200085-78200086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554372747	chr2:78200115-78200116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536332808	chr2:78200120-78200121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561264863	chr2:78200121-78200122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185462273	chr2:78200140-78200141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369964607	chr2:78200148-78200149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76141911	chr2:78200160-78200161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78195200-78200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:78195800-78199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:78199200-78201800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:78199600-78200200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:78199800-78200000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:78200000-78200400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:78200000-78200800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:78200200-78200400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:78200200-78201200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:78200400-78200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:78200400-78201400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:78200600-78201000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:78200600-78201800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:78200800-78201200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:78200800-78201600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:78201200-78201400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:78201200-78201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:78201400-78201800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:78201400-78202000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:78201400-78204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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