Variant report

Variant	esv3387838
Chromosome Location	chr2:77646994-77649092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559847886	chr2:77647014-77647015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145229638	chr2:77647077-77647078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548773995	chr2:77647097-77647098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568687173	chr2:77647116-77647117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531170657	chr2:77647142-77647143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550971226	chr2:77647169-77647170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149141255	chr2:77647177-77647178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538215368	chr2:77647181-77647182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558132282	chr2:77647188-77647189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187751283	chr2:77647192-77647193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534426770	chr2:77647194-77647195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369760001	chr2:77647209-77647210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146273403	chr2:77647213-77647214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191171140	chr2:77647243-77647244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182182951	chr2:77647264-77647265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558710799	chr2:77647282-77647283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187767556	chr2:77647287-77647288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556963928	chr2:77647306-77647307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192896973	chr2:77647312-77647313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546176070	chr2:77647313-77647314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184591045	chr2:77647315-77647316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113365138	chr2:77647319-77647320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528565352	chr2:77647355-77647356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542328065	chr2:77647389-77647390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377757846	chr2:77647443-77647444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531009962	chr2:77647566-77647567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551163030	chr2:77647602-77647603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571009421	chr2:77647640-77647641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188276016	chr2:77647682-77647683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191974430	chr2:77647716-77647717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13404665	chr2:77647731-77647732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371028225	chr2:77647749-77647750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148530177	chr2:77647750-77647751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534342458	chr2:77647768-77647769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558283149	chr2:77647789-77647790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139399429	chr2:77647823-77647824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111968427	chr2:77647849-77647850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373452046	chr2:77647908-77647909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184398643	chr2:77647920-77647921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147097075	chr2:77647947-77647948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13004240	chr2:77647954-77647955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13004824	chr2:77647955-77647956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148134077	chr2:77647966-77647967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530231153	chr2:77647993-77647994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553338930	chr2:77648038-77648039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112595851	chr2:77648074-77648075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542290933	chr2:77648101-77648102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113093533	chr2:77648104-77648105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189273558	chr2:77648175-77648176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76347527	chr2:77648214-77648215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77645200-77647400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:77647200-77647400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:77647400-77650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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