Variant report

Variant	nsv961774
Chromosome Location	chr2:49879626-49902106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs190830551	chr2:49882645-49882646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551084166	chr2:49882654-49882655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533191969	chr2:49882684-49882685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80336183	chr2:49882688-49882689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75053888	chr2:49882691-49882692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548998571	chr2:49882697-49882698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545475439	chr2:49882754-49882755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537758985	chr2:49882762-49882763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534764029	chr2:49882768-49882769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569295084	chr2:49882781-49882782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529240923	chr2:49882808-49882809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374421202	chr2:49882821-49882822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17794773	chr2:49882863-49882864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573464374	chr2:49882866-49882867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540867732	chr2:49882868-49882869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555686606	chr2:49882937-49882938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574237017	chr2:49882949-49882950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544596728	chr2:49882955-49882956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562477006	chr2:49882961-49882962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532793895	chr2:49882969-49882970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562607305	chr2:49882982-49882983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140734640	chr2:49883005-49883006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144093496	chr2:49883018-49883019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559857604	chr2:49883036-49883037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527387065	chr2:49883043-49883044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549120823	chr2:49883101-49883102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372990671	chr2:49883102-49883103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138767921	chr2:49883154-49883155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377573943	chr2:49883158-49883159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551485826	chr2:49883179-49883180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574415693	chr2:49898816-49898817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193174361	chr2:49898843-49898844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183780111	chr2:49898870-49898871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563041529	chr2:49898910-49898911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543138098	chr2:49898915-49898916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533237336	chr2:49898935-49898936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189182640	chr2:49898973-49898974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560283567	chr2:49899002-49899003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527993756	chr2:49899008-49899009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140877020	chr2:49899024-49899025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567152018	chr2:49899025-49899026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547068480	chr2:49899055-49899056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191235144	chr2:49899068-49899069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563426824	chr2:49899072-49899073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571351260	chr2:49899097-49899098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538711388	chr2:49899134-49899135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554026271	chr2:49899135-49899136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572233229	chr2:49899138-49899139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566855285	chr2:49899168-49899169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183801462	chr2:49899189-49899190	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49882600-49883000	Enhancers	Brain Hippocampus Middle	brain
2	chr2:49882800-49883200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:49898800-49899200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:49899600-49900800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:49900800-49902800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:49902000-49902600	Enhancers	HUES48 Cell Line	embryonic stem cell

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