Variant report

Variant	esv3457164
Chromosome Location	chr2:189119183-189121490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:
2	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:
3	chr2:189116827..189120729-chr2:189123718..189126978,3	K562	blood:
4	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191468201	chr2:189119211-189119212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534195667	chr2:189119224-189119225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375974082	chr2:189119226-189119227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368051701	chr2:189119328-189119329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115408484	chr2:189119401-189119402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183205170	chr2:189119411-189119412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567581758	chr2:189119437-189119438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188904078	chr2:189119443-189119444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556421745	chr2:189119450-189119451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571673132	chr2:189119463-189119464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7577224	chr2:189119479-189119480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112146469	chr2:189119499-189119500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73039983	chr2:189119508-189119509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs80274392	chr2:189119510-189119511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200719836	chr2:189119543-189119544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543375187	chr2:189119556-189119557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374743248	chr2:189119560-189119561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147240738	chr2:189119562-189119563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369487560	chr2:189119581-189119582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543367586	chr2:189119618-189119619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141749539	chr2:189119621-189119622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564834437	chr2:189119632-189119633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201709493	chr2:189119636-189119637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576844008	chr2:189119650-189119651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540844335	chr2:189119656-189119657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559156809	chr2:189119658-189119659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529816660	chr2:189119668-189119669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548124342	chr2:189119740-189119741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562505571	chr2:189119756-189119757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368826514	chr2:189119799-189119800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531616889	chr2:189119823-189119824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550099315	chr2:189119824-189119825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185179022	chr2:189119899-189119900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559189026	chr2:189119939-189119940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539097429	chr2:189119967-189119968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190057871	chr2:189120078-189120079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34139581	chr2:189120131-189120132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577148747	chr2:189120222-189120223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547893303	chr2:189120244-189120245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566326005	chr2:189120256-189120257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191718575	chr2:189120260-189120261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554975367	chr2:189120326-189120327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141047864	chr2:189120363-189120364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142441567	chr2:189120425-189120426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558494422	chr2:189120478-189120479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576414699	chr2:189120502-189120503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77724191	chr2:189120534-189120535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376840554	chr2:189120588-189120589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574332294	chr2:189120646-189120647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184269925	chr2:189120665-189120666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189100400-189121200	Weak transcription	K562	blood
2	chr2:189119800-189122600	Weak transcription	Fetal Heart	heart
3	chr2:189121200-189121800	Enhancers	K562	blood
4	chr2:189121400-189121600	Enhancers	Aorta	Aorta

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