Variant report

Variant	esv3425134
Chromosome Location	chr2:179879082-179881655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs536975247	chr2:179879087-179879088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190091126	chr2:179879088-179879089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576351460	chr2:179879152-179879153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528722024	chr2:179879161-179879162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182302020	chr2:179879166-179879167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564194622	chr2:179879168-179879169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140022270	chr2:179879176-179879177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549867556	chr2:179879178-179879179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371631866	chr2:179879210-179879211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538589676	chr2:179879224-179879225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149759292	chr2:179879233-179879234	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549270228	chr2:179879268-179879269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572645719	chr2:179879310-179879311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113175610	chr2:179879405-179879406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186964326	chr2:179879407-179879408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374393738	chr2:179879437-179879438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557508610	chr2:179879495-179879496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577752001	chr2:179879523-179879524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148894373	chr2:179879524-179879525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142628160	chr2:179879527-179879528	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545095044	chr2:179879539-179879540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573984126	chr2:179879540-179879541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368301547	chr2:179879542-179879543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542644615	chr2:179879545-179879546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560039630	chr2:179879574-179879575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192678844	chr2:179879645-179879646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371715856	chr2:179879679-179879680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565493720	chr2:179879680-179879681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531097778	chr2:179879708-179879709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150847163	chr2:179879719-179879720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184025326	chr2:179879729-179879730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563194644	chr2:179879730-179879731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147609384	chr2:179879762-179879763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202000740	chr2:179879791-179879792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200290016	chr2:179879793-179879794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57021863	chr2:179879794-179879795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58253002	chr2:179879796-179879797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548700843	chr2:179879798-179879799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57395637	chr2:179879820-179879821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201687203	chr2:179879829-179879830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372075311	chr2:179879831-179879832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60459304	chr2:179879833-179879834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374933890	chr2:179879837-179879838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59051988	chr2:179879843-179879844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368327336	chr2:179879846-179879847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60543279	chr2:179879849-179879850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61222905	chr2:179879860-179879861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56105301	chr2:179879870-179879871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58621012	chr2:179879877-179879878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184215935	chr2:179879880-179879881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179864000-179885000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:179871000-179882400	Weak transcription	Thymus	Thymus
3	chr2:179875000-179879800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:179879800-179881800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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