Variant report

Variant	esv3337129
Chromosome Location	chr2:50836948-50838996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570145877	chr2:50836953-50836954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537171194	chr2:50836981-50836982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367707922	chr2:50837039-50837040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371401643	chr2:50837053-50837054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552284695	chr2:50837059-50837060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181412840	chr2:50837080-50837081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138508725	chr2:50837114-50837115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186224467	chr2:50837155-50837156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57185802	chr2:50837191-50837192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190730751	chr2:50837192-50837193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535373879	chr2:50837247-50837248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149243328	chr2:50837262-50837263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575083285	chr2:50837302-50837303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112535080	chr2:50837340-50837341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375780958	chr2:50837364-50837365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565061415	chr2:50837398-50837399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534935843	chr2:50837407-50837408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370142142	chr2:50837432-50837433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374957530	chr2:50837469-50837470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1469157	chr2:50837494-50837495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs530472102	chr2:50837509-50837510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542137130	chr2:50837540-50837541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1469158	chr2:50837549-50837550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375207970	chr2:50837566-50837567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77307153	chr2:50837579-50837580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555908817	chr2:50837614-50837615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183139318	chr2:50837616-50837617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1469159	chr2:50837708-50837709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs372248659	chr2:50837765-50837766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371867677	chr2:50837780-50837781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201213746	chr2:50837781-50837782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200856936	chr2:50837800-50837801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs70948722	chr2:50837816-50837817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5831144	chr2:50837892-50837893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34423309	chr2:50837893-50837894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546612662	chr2:50837894-50837895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28635808	chr2:50837916-50837917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113435471	chr2:50837921-50837922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12997910	chr2:50837940-50837941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186037096	chr2:50837957-50837958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535779217	chr2:50837988-50837989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556992489	chr2:50837993-50837994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144520567	chr2:50837996-50837997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545134740	chr2:50838012-50838013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558726463	chr2:50838033-50838034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375279607	chr2:50838039-50838040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368628635	chr2:50838081-50838082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372620039	chr2:50838088-50838089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148424012	chr2:50838139-50838140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369298649	chr2:50838149-50838150	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
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50832800-50838400	Weak transcription	Fetal Brain Female	brain
2	chr2:50834200-50838200	Weak transcription	Hela-S3	cervix
3	chr2:50834200-50838600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:50834600-50838800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:50835200-50847200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:50835200-50848600	Weak transcription	Brain Germinal Matrix	brain
7	chr2:50835400-50838400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:50838200-50841400	Enhancers	Hela-S3	cervix
9	chr2:50838400-50838800	Enhancers	Fetal Brain Female	brain
10	chr2:50838400-50838800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:50838400-50840200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:50838600-50839000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:50838600-50840000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:50838800-50839000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:50838800-50839400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:50838800-50849400	Weak transcription	Fetal Brain Female	brain

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