Variant report

Variant	nsv961362
Chromosome Location	chr2:182985342-182986936
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187852143	chr2:182985347-182985348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191368676	chr2:182985352-182985353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530256248	chr2:182985354-182985355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547139693	chr2:182985387-182985388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs137956818	chr2:182985399-182985400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143409811	chr2:182985415-182985416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75172103	chr2:182985463-182985464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568553372	chr2:182985472-182985473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537825055	chr2:182985473-182985474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182635074	chr2:182985518-182985519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533990991	chr2:182985532-182985533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140099817	chr2:182985576-182985577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540062368	chr2:182985610-182985611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534251396	chr2:182985706-182985707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147173523	chr2:182985707-182985708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577107827	chr2:182985740-182985741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545556490	chr2:182985794-182985795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565359368	chr2:182985840-182985841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187360280	chr2:182985905-182985906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201151516	chr2:182985918-182985919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567254549	chr2:182986031-182986032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561441692	chr2:182986050-182986051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199602044	chr2:182986088-182986089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34795732	chr2:182986090-182986091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3063150	chr2:182986091-182986092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78370472	chr2:182986092-182986093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530380212	chr2:182986122-182986123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140370684	chr2:182986126-182986127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546794643	chr2:182986163-182986164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77148250	chr2:182986171-182986172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532558886	chr2:182986227-182986228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551888004	chr2:182986239-182986240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141266661	chr2:182986248-182986249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150760928	chr2:182986266-182986267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555929252	chr2:182986283-182986284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568266972	chr2:182986331-182986332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1985479	chr2:182986354-182986355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538175601	chr2:182986366-182986367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577141008	chr2:182986367-182986368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192261283	chr2:182986372-182986373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559118319	chr2:182986423-182986424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375193825	chr2:182986428-182986429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116072699	chr2:182986445-182986446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184553613	chr2:182986451-182986452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561290482	chr2:182986464-182986465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574738682	chr2:182986472-182986473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113213512	chr2:182986504-182986505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560398243	chr2:182986509-182986510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532589617	chr2:182986524-182986525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552318662	chr2:182986555-182986556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182966800-182996400	Weak transcription	Fetal Thymus	thymus
2	chr2:182985200-182985800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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