Variant report

Variant	esv3339624
Chromosome Location	chr2:212808557-212809555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212804339..212807209-chr2:212807854..212810158,3	MCF-7	breast:
2	chr2:212808593..212810122-chr2:212818044..212819850,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34144254	chr2:212808592-212808593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530815950	chr2:212808621-212808622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370787888	chr2:212808633-212808634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564288104	chr2:212808712-212808713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184252574	chr2:212808740-212808741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143432331	chr2:212808779-212808780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529826582	chr2:212808783-212808784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546420795	chr2:212808796-212808797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71397154	chr2:212808806-212808807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369325365	chr2:212808807-212808808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58348907	chr2:212808822-212808823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35918167	chr2:212808834-212808835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71397155	chr2:212808889-212808890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559506536	chr2:212808890-212808891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533488044	chr2:212808891-212808892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60922411	chr2:212808902-212808903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545295538	chr2:212808906-212808907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58874122	chr2:212808907-212808908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71409864	chr2:212808908-212808909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375372700	chr2:212808916-212808917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199820456	chr2:212808923-212808924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563002732	chr2:212808925-212808926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371912701	chr2:212808931-212808932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71054152	chr2:212808933-212808934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376857349	chr2:212808935-212808936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80107885	chr2:212808940-212808941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202142228	chr2:212808942-212808943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200995812	chr2:212808949-212808950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377592348	chr2:212808950-212808951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201132871	chr2:212808951-212808952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs839534	chr2:212808952-212808953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111841401	chr2:212809026-212809027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189153587	chr2:212809050-212809051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551987218	chr2:212809051-212809052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs839535	chr2:212809095-212809096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191438188	chr2:212809123-212809124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183917932	chr2:212809176-212809177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139257609	chr2:212809198-212809199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536836376	chr2:212809222-212809223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553641995	chr2:212809317-212809318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573484708	chr2:212809405-212809406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545438661	chr2:212809413-212809414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558807014	chr2:212809428-212809429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201458516	chr2:212809446-212809447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575560730	chr2:212809463-212809464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188654739	chr2:212809475-212809476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112903011	chr2:212809495-212809496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578062943	chr2:212809503-212809504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546655518	chr2:212809505-212809506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212806800-212816400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212808000-212808600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr2:212808200-212808600	Enhancers	Fetal Heart	heart

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