Variant report

Variant	nsv934040
Chromosome Location	chr2:50681850-50711452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:50698680..50701343-chr2:50702519..50705361,2	K562	blood:
2	chr2:50699843..50701598-chr2:50702519..50705507,3	K562	blood:
3	chr2:50699843..50701598-chr2:50702519..50705507,3	K562	blood:
4	chr2:50698680..50701343-chr2:50702519..50705361,2	K562	blood:

Extended variants
information (count: 1478 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1478 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372402848	chr2:50681852-50681853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115777953	chr2:50681878-50681879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186765831	chr2:50681886-50681887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192227791	chr2:50681889-50681890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560901129	chr2:50681908-50681909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562431267	chr2:50681914-50681915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531306367	chr2:50681917-50681918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75881961	chr2:50681951-50681952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571412127	chr2:50681991-50681992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13014091	chr2:50682023-50682024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75441050	chr2:50682036-50682037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547324364	chr2:50682055-50682056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543402748	chr2:50682076-50682077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1520434	chr2:50682103-50682104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565849498	chr2:50682118-50682119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6740211	chr2:50682132-50682133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555405197	chr2:50682146-50682147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80279103	chr2:50682224-50682225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537800165	chr2:50682241-50682242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150927542	chr2:50682255-50682256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80135895	chr2:50682271-50682272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140935961	chr2:50682272-50682273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560551118	chr2:50682276-50682277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185063412	chr2:50682283-50682284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542765977	chr2:50682318-50682319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144645361	chr2:50682324-50682325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531343917	chr2:50682332-50682333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138688526	chr2:50682334-50682335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189529613	chr2:50682391-50682392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532334593	chr2:50682423-50682424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547657936	chr2:50682460-50682461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1005431	chr2:50682462-50682463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536008769	chr2:50682475-50682476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193163821	chr2:50682487-50682488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184354327	chr2:50682516-50682517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558811461	chr2:50682535-50682536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537938118	chr2:50682544-50682545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556329537	chr2:50682549-50682550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141705422	chr2:50682562-50682563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7603982	chr2:50682596-50682597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554411393	chr2:50682620-50682621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557520605	chr2:50682648-50682649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572556924	chr2:50682730-50682731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150377992	chr2:50682745-50682746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555193745	chr2:50682769-50682770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9917153	chr2:50682914-50682915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543524096	chr2:50682934-50682935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7590358	chr2:50682959-50682960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111394182	chr2:50682993-50682994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138114380	chr2:50683011-50683012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50673800-50684200	Weak transcription	Fetal Brain Male	brain
2	chr2:50677400-50683200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:50683200-50684000	Enhancers	Brain Germinal Matrix	brain
4	chr2:50684000-50691800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:50684200-50684600	Enhancers	Fetal Brain Male	brain
6	chr2:50686800-50687200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:50687200-50688000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:50688000-50688200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:50691000-50691200	Enhancers	Fetal Brain Female	brain
10	chr2:50691200-50711600	Weak transcription	Fetal Brain Female	brain
11	chr2:50691200-50716000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:50691400-50703000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:50691600-50718600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:50691800-50692000	Enhancers	Brain Germinal Matrix	brain
15	chr2:50692000-50692400	Weak transcription	Brain Germinal Matrix	brain
16	chr2:50692400-50692600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr2:50692400-50695600	Enhancers	Brain Germinal Matrix	brain
18	chr2:50692600-50705400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:50695200-50696200	Enhancers	Stomach Mucosa	stomach
20	chr2:50695600-50709400	Weak transcription	Brain Germinal Matrix	brain
21	chr2:50696600-50698000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:50697000-50697400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:50697000-50697400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:50699000-50742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:50702600-50702800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:50703000-50703200	Enhancers	Brain Hippocampus Middle	brain
27	chr2:50704400-50705000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:50704400-50718600	Weak transcription	Fetal Brain Male	brain
29	chr2:50704800-50705200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:50705200-50706200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:50705400-50706200	Enhancers	Stomach Mucosa	stomach
32	chr2:50705400-50706600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:50706200-50719000	Weak transcription	Stomach Mucosa	stomach
34	chr2:50706400-50706600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:50706600-50719400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:50709400-50710000	Strong transcription	Brain Germinal Matrix	brain
37	chr2:50710000-50712400	Weak transcription	Brain Germinal Matrix	brain

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