Variant report

Variant	nsv527569
Chromosome Location	chr2:50371688-50373620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49997762..49998692-chr2:50371136..50371712,4	MCF-7	breast:
2	chr2:50371657..50373870-chr2:50397104..50398913,2	K562	blood:
3	chr2:49173436..49174023-chr2:50371199..50372057,2	MCF-7	breast:
4	chr2:49997735..49998660-chr2:50371421..50371995,2	MCF-7	breast:
5	chr2:49843960..49844616-chr2:50371140..50372027,2	MCF-7	breast:
6	chr2:49914681..49916077-chr2:50370732..50372339,6	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17039988	chr2:50371688-50371689	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546134001	chr2:50371704-50371705	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs552495862	chr2:50371709-50371710	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570778239	chr2:50371713-50371714	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs142844434	chr2:50371714-50371715	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547299128	chr2:50371724-50371725	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568817705	chr2:50371733-50371734	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73932951	chr2:50371756-50371757	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557282385	chr2:50371768-50371769	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571663087	chr2:50371824-50371825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568889597	chr2:50371885-50371886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539183023	chr2:50371900-50371901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557703478	chr2:50371923-50371924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151065430	chr2:50371927-50371928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540693415	chr2:50371928-50371929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539872624	chr2:50371941-50371942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17039989	chr2:50371983-50371984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545295258	chr2:50371984-50371985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544351958	chr2:50371997-50371998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386645959	chr2:50372010-50372011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187805211	chr2:50372043-50372044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35110074	chr2:50372064-50372065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10203599	chr2:50372073-50372074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545996618	chr2:50372089-50372090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527697640	chr2:50372152-50372153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141331321	chr2:50372201-50372202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564603831	chr2:50372227-50372228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145120826	chr2:50372229-50372230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72881248	chr2:50372232-50372233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs193166863	chr2:50372263-50372264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185336291	chr2:50372275-50372276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370863624	chr2:50372321-50372322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529616870	chr2:50372327-50372328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551128087	chr2:50372329-50372330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5831092	chr2:50372438-50372439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113660501	chr2:50372451-50372452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569368506	chr2:50372453-50372454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529057041	chr2:50372457-50372458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139003620	chr2:50372547-50372548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551169391	chr2:50372574-50372575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566274370	chr2:50372642-50372643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78112402	chr2:50372647-50372648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188656095	chr2:50372650-50372651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140735926	chr2:50372663-50372664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17505397	chr2:50372664-50372665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556288370	chr2:50372673-50372674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150085372	chr2:50372718-50372719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17446158	chr2:50372726-50372727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12994409	chr2:50372736-50372737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568525795	chr2:50372754-50372755	Weak transcription	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50371000-50371800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:50371400-50371800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:50371400-50374400	Weak transcription	Brain Germinal Matrix	brain
4	chr2:50371600-50373400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:50371600-50373800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:50371600-50373800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:50371600-50374000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:50371600-50375000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:50371600-50375200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:50371600-50375600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:50373400-50375000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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