Variant report

Variant	esv2762560
Chromosome Location	chr2:50597915-50605863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1915174	chr2:50597915-50597916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539669201	chr2:50597916-50597917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557815269	chr2:50597917-50597918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150100820	chr2:50597923-50597924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542811805	chr2:50597969-50597970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540212298	chr2:50597972-50597973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78625801	chr2:50597980-50597981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115685885	chr2:50597990-50597991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75976120	chr2:50598005-50598006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573680790	chr2:50598035-50598036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192565624	chr2:50598045-50598046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5831116	chr2:50598109-50598110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184818789	chr2:50598113-50598114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146766375	chr2:50598116-50598117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545091046	chr2:50598129-50598130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367984774	chr2:50598134-50598135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577884029	chr2:50598135-50598136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368130798	chr2:50598145-50598146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187679923	chr2:50598177-50598178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192805979	chr2:50598178-50598179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564595246	chr2:50598183-50598184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528625295	chr2:50598186-50598187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12465784	chr2:50598187-50598188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561894634	chr2:50598190-50598191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565246652	chr2:50598192-50598193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112640054	chr2:50598237-50598238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550836953	chr2:50598247-50598248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569241479	chr2:50598255-50598256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539633284	chr2:50598257-50598258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551725923	chr2:50598285-50598286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184308736	chr2:50598290-50598291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533603055	chr2:50598302-50598303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12465806	chr2:50598327-50598328	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs573644036	chr2:50598361-50598362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370094692	chr2:50598378-50598379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547529410	chr2:50598380-50598381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76195894	chr2:50598418-50598419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115241705	chr2:50598419-50598420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545185062	chr2:50598420-50598421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550363630	chr2:50598424-50598425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189872094	chr2:50598585-50598586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191510488	chr2:50599853-50599854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531956647	chr2:50599854-50599855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577066524	chr2:50599873-50599874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17531335	chr2:50599937-50599938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571345124	chr2:50599941-50599942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540463375	chr2:50600063-50600064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527630454	chr2:50600112-50600113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531994466	chr2:50600142-50600143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547407963	chr2:50600155-50600156	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50597400-50598600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:50598200-50598600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:50599800-50600200	Enhancers	Pancreatic Islets	Pancreatic Islet

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