Variant report

Variant	esv3335548
Chromosome Location	chr2:50708198-50710196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576659284	chr2:50708247-50708248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77730672	chr2:50708262-50708263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368023420	chr2:50708282-50708283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565293964	chr2:50708293-50708294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142945115	chr2:50708312-50708313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189141698	chr2:50708324-50708325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535851491	chr2:50708452-50708453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540694467	chr2:50708475-50708476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559010303	chr2:50708479-50708480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11684125	chr2:50708571-50708572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376336685	chr2:50708593-50708594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547875598	chr2:50708606-50708607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190209525	chr2:50708645-50708646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530676903	chr2:50708660-50708661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180955501	chr2:50708667-50708668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570631762	chr2:50708673-50708674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185182704	chr2:50708699-50708700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547943963	chr2:50708754-50708755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566154710	chr2:50708762-50708763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11678492	chr2:50708799-50708800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs554653362	chr2:50708831-50708832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34859855	chr2:50708872-50708873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189790454	chr2:50708883-50708884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200467270	chr2:50708894-50708895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58569234	chr2:50708898-50708899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370742639	chr2:50708899-50708900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558353253	chr2:50708928-50708929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537319000	chr2:50708962-50708963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369830277	chr2:50709007-50709008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558744326	chr2:50709055-50709056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373836694	chr2:50709058-50709059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541207526	chr2:50709094-50709095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572229270	chr2:50709100-50709101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375804351	chr2:50709116-50709117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574187224	chr2:50709128-50709129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6707831	chr2:50709150-50709151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563092166	chr2:50709152-50709153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182781661	chr2:50709176-50709177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112695139	chr2:50709186-50709187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548928586	chr2:50709197-50709198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528321560	chr2:50709201-50709202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566941830	chr2:50709217-50709218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561245670	chr2:50709247-50709248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10200688	chr2:50709285-50709286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78966642	chr2:50709340-50709341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111715724	chr2:50709368-50709369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114112641	chr2:50709380-50709381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142659317	chr2:50709381-50709382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373774957	chr2:50709386-50709387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563717087	chr2:50709401-50709402	Weak transcription Strong 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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50691200-50711600	Weak transcription	Fetal Brain Female	brain
2	chr2:50691200-50716000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:50691600-50718600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:50695600-50709400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:50699000-50742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:50704400-50718600	Weak transcription	Fetal Brain Male	brain
7	chr2:50706200-50719000	Weak transcription	Stomach Mucosa	stomach
8	chr2:50706600-50719400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:50709400-50710000	Strong transcription	Brain Germinal Matrix	brain
10	chr2:50710000-50712400	Weak transcription	Brain Germinal Matrix	brain

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