Variant report

Variant	esv3348614
Chromosome Location	chr2:188676407-188680105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397986988	chr2:188677204-188677205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61558944	chr2:188677221-188677222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115188818	chr2:188677235-188677236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567861929	chr2:188677289-188677290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142609701	chr2:188677322-188677323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186925079	chr2:188677402-188677403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572016605	chr2:188677476-188677477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372359402	chr2:188677501-188677502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147626228	chr2:188677546-188677547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553522668	chr2:188677563-188677564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369234143	chr2:188677571-188677572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557557733	chr2:188677575-188677576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572074548	chr2:188677625-188677626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542380446	chr2:188677627-188677628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142428483	chr2:188677776-188677777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560302015	chr2:188677830-188677831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146466554	chr2:188677836-188677837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116054501	chr2:188677843-188677844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191726804	chr2:188677854-188677855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545350750	chr2:188677861-188677862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183182952	chr2:188677892-188677893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376446360	chr2:188677902-188677903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147905212	chr2:188677919-188677920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140426671	chr2:188677946-188677947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567800792	chr2:188677967-188677968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187874180	chr2:188678144-188678145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116338762	chr2:188678148-188678149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190167268	chr2:188678172-188678173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538979945	chr2:188678184-188678185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71020717	chr2:188678209-188678210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553700897	chr2:188678221-188678222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565544697	chr2:188678252-188678253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182076021	chr2:188678310-188678311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554237202	chr2:188678372-188678373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575782384	chr2:188678398-188678399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529132681	chr2:188678436-188678437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186667138	chr2:188678450-188678451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558342787	chr2:188678613-188678614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532416710	chr2:188678663-188678664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201188022	chr2:188678684-188678685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192488352	chr2:188678686-188678687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185722576	chr2:188678710-188678711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540968620	chr2:188678713-188678714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150408483	chr2:188678756-188678757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572338070	chr2:188678762-188678763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537173144	chr2:188678805-188678806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529008478	chr2:188678831-188678832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200889408	chr2:188678840-188678841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs68041517	chr2:188678841-188678842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543090830	chr2:188678875-188678876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188677200-188681400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:188679800-188680200	Enhancers	HepG2	liver
3	chr2:188680000-188680200	Enhancers	Stomach Mucosa	stomach
4	chr2:188680000-188680400	Enhancers	A549	lung

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