Variant report

Variant	esv3382201
Chromosome Location	chr2:77199044-77203242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76150006	chr2:77202048-77202049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573661729	chr2:77202049-77202050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1947115	chr2:77202072-77202073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1947116	chr2:77202076-77202077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187548023	chr2:77202124-77202125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375283614	chr2:77202156-77202157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17333926	chr2:77202157-77202158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371291433	chr2:77202159-77202160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536101979	chr2:77202195-77202196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114249101	chr2:77202196-77202197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554239251	chr2:77202206-77202207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145446637	chr2:77202228-77202229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575873016	chr2:77202246-77202247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372177453	chr2:77202265-77202266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566936814	chr2:77202318-77202319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527915854	chr2:77202327-77202328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111732501	chr2:77202335-77202336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536833116	chr2:77202369-77202370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116325752	chr2:77202388-77202389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550377268	chr2:77202630-77202631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571331496	chr2:77202656-77202657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565259328	chr2:77202726-77202727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192588794	chr2:77202728-77202729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1446710	chr2:77202747-77202748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs151004647	chr2:77202758-77202759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183692197	chr2:77202759-77202760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77633556	chr2:77202835-77202836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569592235	chr2:77202866-77202867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186835479	chr2:77202911-77202912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1446711	chr2:77202938-77202939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376114929	chr2:77202945-77202946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71420984	chr2:77202961-77202962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200203589	chr2:77202971-77202972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201879377	chr2:77202973-77202974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72823135	chr2:77203017-77203018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534664563	chr2:77203037-77203038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552786716	chr2:77203067-77203068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544013016	chr2:77203118-77203119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541833710	chr2:77203140-77203141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562435295	chr2:77203145-77203146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144767571	chr2:77203155-77203156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191713123	chr2:77203164-77203165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1446712	chr2:77203168-77203169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74718857	chr2:77203193-77203194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111588853	chr2:77203237-77203238	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77202000-77202400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:77202600-77204200	Enhancers	HUVEC	blood vessel
3	chr2:77203000-77206600	Enhancers	Fetal Lung	lung

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