Variant report

Variant	nsv961672
Chromosome Location	chr2:76938081-76949105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 593 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569983992	chr2:76938116-76938117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537317795	chr2:76938140-76938141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112311827	chr2:76938145-76938146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558599279	chr2:76938148-76938149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538446694	chr2:76938189-76938190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189329820	chr2:76938214-76938215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567774674	chr2:76938241-76938242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72813390	chr2:76938274-76938275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs574188872	chr2:76938275-76938276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541591297	chr2:76938300-76938301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568991867	chr2:76938326-76938327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556903373	chr2:76938336-76938337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34139423	chr2:76938349-76938350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544068259	chr2:76938386-76938387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565580967	chr2:76938387-76938388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151308322	chr2:76938390-76938391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554544234	chr2:76938398-76938399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560036432	chr2:76938407-76938408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530193961	chr2:76938412-76938413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548406855	chr2:76938425-76938426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572788011	chr2:76938479-76938480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540477746	chr2:76938482-76938483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13425484	chr2:76938486-76938487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558575649	chr2:76938498-76938499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576598777	chr2:76938520-76938521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544016623	chr2:76938539-76938540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79550374	chr2:76938616-76938617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72813391	chr2:76938617-76938618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530112646	chr2:76938621-76938622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140543664	chr2:76938631-76938632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6755031	chr2:76938639-76938640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546369865	chr2:76938659-76938660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180696842	chr2:76938667-76938668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535502811	chr2:76938688-76938689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556804344	chr2:76938713-76938714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4852409	chr2:76938766-76938767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539071807	chr2:76938771-76938772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557828607	chr2:76938800-76938801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577609550	chr2:76938818-76938819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541780309	chr2:76938819-76938820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150328352	chr2:76938835-76938836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574955706	chr2:76938845-76938846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs137968243	chr2:76938858-76938859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142356255	chr2:76938895-76938896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376278070	chr2:76938916-76938917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186143745	chr2:76938932-76938933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552149083	chr2:76938948-76938949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76402805	chr2:76938959-76938960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528356999	chr2:76938974-76938975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546506939	chr2:76939006-76939007	Weak transcription Enhancers	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76936000-76938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76938400-76939000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:76938400-76939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:76938600-76939000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:76938600-76939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet

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