Variant report

Variant	esv3330444
Chromosome Location	chr2:50583350-50599057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50591468..50594291-chr2:50594747..50597422,2	K562	blood:
2	chr2:50591468..50594291-chr2:50594747..50597422,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543784886	chr2:50583367-50583368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144260735	chr2:50583423-50583424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569825165	chr2:50583430-50583431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565174087	chr2:50583452-50583453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150162265	chr2:50583468-50583469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4638832	chr2:50583489-50583490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370377074	chr2:50583573-50583574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544016731	chr2:50583578-50583579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111310187	chr2:50583581-50583582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373840519	chr2:50583606-50583607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368585733	chr2:50583607-50583608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557063490	chr2:50583641-50583642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181104528	chr2:50583672-50583673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577214634	chr2:50583698-50583699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577492543	chr2:50583807-50583808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545880443	chr2:50583819-50583820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375678508	chr2:50583909-50583910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138734831	chr2:50583931-50583932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369864837	chr2:50583956-50583957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61481177	chr2:50583975-50583976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs536778027	chr2:50583980-50583981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552149737	chr2:50583983-50583984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148922514	chr2:50583991-50583992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184615799	chr2:50584007-50584008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534624383	chr2:50584078-50584079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74822848	chr2:50584114-50584115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575122133	chr2:50584119-50584120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574414584	chr2:50584124-50584125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76306924	chr2:50584130-50584131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556774118	chr2:50584180-50584181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77168138	chr2:50584203-50584204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374248615	chr2:50584213-50584214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559843774	chr2:50584214-50584215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543598703	chr2:50584235-50584236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535545923	chr2:50584261-50584262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577122045	chr2:50584297-50584298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541452778	chr2:50584323-50584324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368767800	chr2:50584330-50584331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138278876	chr2:50584398-50584399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185913493	chr2:50585046-50585047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546402070	chr2:50585068-50585069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191282196	chr2:50585080-50585081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528207216	chr2:50585082-50585083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565405452	chr2:50585094-50585095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567764910	chr2:50585116-50585117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139471045	chr2:50585171-50585172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6727675	chr2:50585175-50585176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569148320	chr2:50585177-50585178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182422748	chr2:50585189-50585190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557958634	chr2:50585203-50585204	Enhancers	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
Autism	20531469	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50581400-50583400	Weak transcription	Fetal Brain Female	brain
2	chr2:50582800-50584000	Enhancers	Fetal Brain Male	brain
3	chr2:50583400-50584400	Enhancers	Fetal Brain Female	brain
4	chr2:50585000-50585600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:50597400-50598600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:50598200-50598600	Enhancers	HUES64 Cell Line	embryonic stem cell

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