Variant report

Variant	nsv581839
Chromosome Location	chr2:50409803-50438701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 432 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4971658	chr2:50420238-50420239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533991255	chr2:50420328-50420329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573612491	chr2:50420340-50420341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191441534	chr2:50420407-50420408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143655227	chr2:50420425-50420426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574949684	chr2:50420447-50420448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556628209	chr2:50420462-50420463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182472055	chr2:50420493-50420494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539385590	chr2:50420545-50420546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186067151	chr2:50420570-50420571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374014460	chr2:50420609-50420610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113721205	chr2:50420615-50420616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150132136	chr2:50420639-50420640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138652537	chr2:50420650-50420651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569127947	chr2:50420689-50420690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532905325	chr2:50420703-50420704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7585511	chr2:50420709-50420710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115487787	chr2:50420757-50420758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76783937	chr2:50420760-50420761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372313027	chr2:50420763-50420764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149312097	chr2:50420764-50420765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547293284	chr2:50420834-50420835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559082272	chr2:50420841-50420842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550661193	chr2:50420852-50420853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73932982	chr2:50420885-50420886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374609614	chr2:50420892-50420893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201982141	chr2:50420960-50420961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182323928	chr2:50421025-50421026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567731811	chr2:50421036-50421037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144606683	chr2:50421037-50421038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534209572	chr2:50421044-50421045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554276931	chr2:50421063-50421064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368722108	chr2:50421073-50421074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571669844	chr2:50421117-50421118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539296441	chr2:50421130-50421131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372244593	chr2:50421139-50421140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76718315	chr2:50421198-50421199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148098151	chr2:50421225-50421226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142748420	chr2:50421233-50421234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185055823	chr2:50421239-50421240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554901170	chr2:50421246-50421247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576080326	chr2:50421309-50421310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543162075	chr2:50421316-50421317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139061530	chr2:50421343-50421344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116953865	chr2:50421364-50421365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146100071	chr2:50421376-50421377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79967285	chr2:50421383-50421384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559199695	chr2:50421413-50421414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115579306	chr2:50421476-50421477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541996941	chr2:50421490-50421491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50420200-50421200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:50420400-50424200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:50420400-50426000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:50420600-50423800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:50420600-50424200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:50420800-50421200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr2:50420800-50421400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:50421000-50421200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:50421000-50421200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:50421200-50421400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:50421200-50422400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:50421200-50423400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:50421200-50424600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:50421400-50423200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:50422400-50422600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:50422400-50422800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:50422600-50423000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:50422600-50423200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:50422800-50423200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:50423000-50425600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:50423200-50423400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:50423200-50423800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:50423200-50425400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:50423200-50426000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:50423400-50424400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:50423400-50426000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:50423800-50425000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr2:50423800-50425000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:50424000-50424600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:50424200-50424400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr2:50424200-50424600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr2:50424400-50424800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr2:50424400-50425000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr2:50424600-50425000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:50424600-50426000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:50424800-50425800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:50425000-50425800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:50425000-50426000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:50425000-50426400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:50425800-50426800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:50426000-50426200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:50426200-50429200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:50427000-50427200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:50429200-50429400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:50435000-50435400	Enhancers	Aorta	Aorta

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