Variant report

Variant	esv3404921
Chromosome Location	chr2:180260007-180264805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560725790	chr2:180261801-180261802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564233553	chr2:180261806-180261807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11695924	chr2:180261812-180261813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577933274	chr2:180261813-180261814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560291303	chr2:180261815-180261816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532601780	chr2:180261827-180261828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552509194	chr2:180261829-180261830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569503002	chr2:180261830-180261831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28576068	chr2:180261833-180261834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199773033	chr2:180261834-180261835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200829415	chr2:180261836-180261837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12104796	chr2:180261837-180261838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149919274	chr2:180261843-180261844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116182569	chr2:180261844-180261845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534287811	chr2:180261847-180261848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554338179	chr2:180261850-180261851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528873026	chr2:180261854-180261855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28687661	chr2:180261856-180261857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566658476	chr2:180261865-180261866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13419395	chr2:180261871-180261872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13432653	chr2:180261872-180261873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549007930	chr2:180261873-180261874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114766269	chr2:180261876-180261877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145006508	chr2:180261878-180261879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575448926	chr2:180261882-180261883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62641574	chr2:180261889-180261890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141054852	chr2:180261894-180261895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13419475	chr2:180261895-180261896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182821001	chr2:180261917-180261918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539922745	chr2:180261924-180261925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62649975	chr2:180261927-180261928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532096706	chr2:180261928-180261929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546330304	chr2:180261935-180261936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562946386	chr2:180261946-180261947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372317106	chr2:180261950-180261951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200985732	chr2:180261951-180261952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202053131	chr2:180261952-180261953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199996865	chr2:180261954-180261955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142939117	chr2:180261958-180261959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71933188	chr2:180261959-180261960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553993026	chr2:180261962-180261963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568444162	chr2:180261969-180261970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527723403	chr2:180261981-180261982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547828417	chr2:180261982-180261983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570930723	chr2:180261987-180261988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548589346	chr2:180261988-180261989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115698510	chr2:180261996-180261997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558678363	chr2:180262006-180262007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs569003494	chr2:180262007-180262008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538122145	chr2:180262011-180262012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180261800-180262000	Weak transcription	Fetal Lung	lung
2	chr2:180262000-180262400	ZNF genes & repeats	Fetal Lung	lung
3	chr2:180262200-180262400	ZNF genes & repeats	Fetal Kidney	kidney
4	chr2:180262400-180262600	Active TSS	Fetal Lung	lung
5	chr2:180263200-180264200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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