Variant report

Variant	nsv961692
Chromosome Location	chr2:77302479-77306376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 184 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199669607	chr2:77302496-77302497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1374395	chr2:77302502-77302503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570611491	chr2:77302565-77302566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534714844	chr2:77302577-77302578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553079099	chr2:77302584-77302585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574564517	chr2:77302587-77302588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535470025	chr2:77302598-77302599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377419466	chr2:77302608-77302609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370499601	chr2:77302609-77302610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1176810	chr2:77302619-77302620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375273115	chr2:77302620-77302621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13392303	chr2:77302684-77302685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543712906	chr2:77302714-77302715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191518016	chr2:77302767-77302768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540401488	chr2:77302771-77302772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368267369	chr2:77302808-77302809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559449250	chr2:77302816-77302817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11126581	chr2:77302817-77302818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548603034	chr2:77302818-77302819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374546521	chr2:77302837-77302838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530835449	chr2:77302869-77302870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11126582	chr2:77302898-77302899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542707998	chr2:77302907-77302908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373560548	chr2:77302918-77302919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534845098	chr2:77302944-77302945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11892906	chr2:77302973-77302974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568204640	chr2:77303019-77303020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11126583	chr2:77303020-77303021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13430289	chr2:77303024-77303025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575092049	chr2:77303027-77303028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12623624	chr2:77303028-77303029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539397753	chr2:77303041-77303042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12617068	chr2:77303042-77303043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61718845	chr2:77303057-77303058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60802639	chr2:77303069-77303070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181983848	chr2:77303073-77303074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146736576	chr2:77303089-77303090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186318228	chr2:77303105-77303106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12614704	chr2:77303198-77303199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs559510791	chr2:77303202-77303203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574921787	chr2:77303240-77303241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541908041	chr2:77303254-77303255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188035180	chr2:77303275-77303276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180848149	chr2:77303304-77303305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546200484	chr2:77303332-77303333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564409562	chr2:77303410-77303411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566423811	chr2:77303425-77303426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186337819	chr2:77303438-77303439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531933127	chr2:77303488-77303489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6750253	chr2:77303531-77303532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77300000-77311600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77302400-77307400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:77303200-77303600	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:77304000-77304600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:77304600-77307800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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