Variant report

Variant	esv1817958
Chromosome Location	chr2:48851247-48853608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539444478	chr2:48851273-48851274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555734819	chr2:48851287-48851288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187256097	chr2:48851301-48851302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143822810	chr2:48851334-48851335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557671643	chr2:48851344-48851345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140587914	chr2:48851373-48851374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575538496	chr2:48851503-48851504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546017521	chr2:48851504-48851505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35258848	chr2:48851517-48851518	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114979558	chr2:48851520-48851521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80326200	chr2:48851541-48851542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561746772	chr2:48851587-48851588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146089648	chr2:48851599-48851600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536185170	chr2:48851601-48851602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553218925	chr2:48851605-48851606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3077611	chr2:48851620-48851621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575136227	chr2:48851623-48851624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190358706	chr2:48851652-48851653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550298814	chr2:48851681-48851682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549870795	chr2:48851704-48851705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6705189	chr2:48851820-48851821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539693677	chr2:48851834-48851835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551552037	chr2:48851882-48851883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566903339	chr2:48851896-48851897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377285388	chr2:48851902-48851903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76595721	chr2:48851911-48851912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573722173	chr2:48851955-48851956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544296196	chr2:48851958-48851959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562438704	chr2:48851976-48851977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532298167	chr2:48851986-48851987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555747634	chr2:48852038-48852039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532994937	chr2:48852045-48852046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371494929	chr2:48852059-48852060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183366550	chr2:48852134-48852135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556740716	chr2:48852138-48852139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578136949	chr2:48852158-48852159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34206180	chr2:48852178-48852179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545476595	chr2:48852207-48852208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545002855	chr2:48852272-48852273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572925777	chr2:48852305-48852306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540536771	chr2:48852341-48852342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115397499	chr2:48852359-48852360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376630716	chr2:48852363-48852364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564797521	chr2:48852422-48852423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543803851	chr2:48852470-48852471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193096945	chr2:48852506-48852507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528816436	chr2:48852531-48852532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532875190	chr2:48852532-48852533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547279281	chr2:48852543-48852544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551031424	chr2:48852560-48852561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48831000-48859600	Weak transcription	Ovary	ovary
2	chr2:48836600-48862000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:48847000-48853000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:48853000-48853400	ZNF genes & repeats	Colon Smooth Muscle	Colon
5	chr2:48853000-48854000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr2:48853400-48853800	Weak transcription	Colon Smooth Muscle	Colon

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