Variant report

Variant	nsv213365
Chromosome Location	chr2:49498943-49508564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540057644	chr2:49499018-49499019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181618949	chr2:49499077-49499078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376274167	chr2:49499086-49499087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116064863	chr2:49499094-49499095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377613148	chr2:49499097-49499098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147570143	chr2:49499119-49499120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377049002	chr2:49499142-49499143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111464374	chr2:49499176-49499177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55801255	chr2:49499180-49499181	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142747483	chr2:49499200-49499201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs70946859	chr2:49499214-49499215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370802807	chr2:49499215-49499216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374450312	chr2:49499218-49499219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371292580	chr2:49499225-49499226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141983545	chr2:49499244-49499245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527956913	chr2:49499267-49499268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549633602	chr2:49499352-49499353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567837440	chr2:49499368-49499369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67353357	chr2:49499404-49499405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550239905	chr2:49499463-49499464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190570998	chr2:49499479-49499480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537113840	chr2:49499488-49499489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539024149	chr2:49499494-49499495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553718681	chr2:49499496-49499497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572815896	chr2:49499507-49499508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533819075	chr2:49499534-49499535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180809172	chr2:49499563-49499564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149722480	chr2:49499564-49499565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370244385	chr2:49499565-49499566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557448200	chr2:49499642-49499643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12713046	chr2:49499661-49499662	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368329384	chr2:49499663-49499664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186085713	chr2:49499691-49499692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562608410	chr2:49499692-49499693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191087253	chr2:49499694-49499695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567007287	chr2:49499699-49499700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546324366	chr2:49499709-49499710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181096562	chr2:49499738-49499739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185487272	chr2:49499775-49499776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190340205	chr2:49499801-49499802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183029692	chr2:49499809-49499810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561505766	chr2:49499812-49499813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529325652	chr2:49499813-49499814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201184950	chr2:49499824-49499825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs202153219	chr2:49499825-49499826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200318521	chr2:49499826-49499827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531941841	chr2:49499851-49499852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55837859	chr2:49499859-49499860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550058498	chr2:49499967-49499968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571731992	chr2:49499982-49499983	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49498600-49499600	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:49498800-49500000	Enhancers	Fetal Brain Male	brain
3	chr2:49499600-49499800	Enhancers	Fetal Muscle Leg	muscle

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