Variant report

Variant	esv18337
Chromosome Location	chr2:186741423-186747368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:
2	chr2:186734702..186736953-chr2:186739550..186741965,2	MCF-7	breast:
3	chr2:186741175..186743547-chr2:186745596..186747466,2	K562	blood:
4	chr2:186741175..186743547-chr2:186745596..186747466,2	K562	blood:
5	chr2:186741094..186742675-chr2:186744709..186747466,2	K562	blood:

Extended variants
information (count: 211 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34965054	chr2:186741423-186741424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138457754	chr2:186741431-186741432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71432431	chr2:186741438-186741439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535090134	chr2:186741439-186741440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561761345	chr2:186741519-186741520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546693738	chr2:186741538-186741539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181352970	chr2:186741550-186741551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113813334	chr2:186741611-186741612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557230285	chr2:186741638-186741639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185580356	chr2:186741639-186741640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191734328	chr2:186741652-186741653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140844159	chr2:186741655-186741656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573539685	chr2:186741659-186741660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75021226	chr2:186741702-186741703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576877664	chr2:186741730-186741731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541103164	chr2:186741753-186741754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183649883	chr2:186741754-186741755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6740177	chr2:186741760-186741761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4500903	chr2:186741782-186741783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542183462	chr2:186741823-186741824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563583604	chr2:186741850-186741851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187374043	chr2:186741908-186741909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546042515	chr2:186741910-186741911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564273130	chr2:186741923-186741924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12475622	chr2:186741940-186741941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547050086	chr2:186741962-186741963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4349308	chr2:186741968-186741969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs377245579	chr2:186742004-186742005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72903912	chr2:186742043-186742044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533919863	chr2:186742051-186742052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569213808	chr2:186742086-186742087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563141683	chr2:186742157-186742158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539707837	chr2:186742176-186742177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557960521	chr2:186742242-186742243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559032514	chr2:186742249-186742250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567031505	chr2:186742270-186742271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192322747	chr2:186742331-186742332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553022554	chr2:186742455-186742456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35121888	chr2:186742459-186742460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574407102	chr2:186742462-186742463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398080892	chr2:186742467-186742468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397823209	chr2:186742468-186742469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541849883	chr2:186742472-186742473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146112832	chr2:186742507-186742508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373644995	chr2:186742546-186742547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530876925	chr2:186742553-186742554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373271125	chr2:186742567-186742568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577451716	chr2:186742580-186742581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67196811	chr2:186742636-186742637	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564155283	chr2:186742697-186742698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186716800-186767200	Weak transcription	Ovary	ovary
2	chr2:186742600-186743200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:186744800-186745200	Enhancers	HepG2	liver
4	chr2:186745600-186756600	Weak transcription	Left Ventricle	heart

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