Variant report

Variant	esv3403918
Chromosome Location	chr2:212551107-212552055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533485710	chr2:212551117-212551118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562094375	chr2:212551130-212551131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570171236	chr2:212551171-212551172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183043292	chr2:212551199-212551200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549068985	chr2:212551203-212551204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77008870	chr2:212551261-212551262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79507635	chr2:212551262-212551263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200054952	chr2:212551541-212551542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201069683	chr2:212551542-212551543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192401457	chr2:212551694-212551695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534693663	chr2:212551714-212551715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557757457	chr2:212551746-212551747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184362847	chr2:212551770-212551771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536959303	chr2:212551775-212551776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189592965	chr2:212551795-212551796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566680889	chr2:212551799-212551800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573754867	chr2:212551816-212551817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146307372	chr2:212551817-212551818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34140591	chr2:212551858-212551859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35780137	chr2:212551859-212551860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201325228	chr2:212551870-212551871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59024871	chr2:212551871-212551872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11890020	chr2:212551890-212551891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545000993	chr2:212551892-212551893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564909837	chr2:212551903-212551904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578172189	chr2:212551911-212551912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543782051	chr2:212551917-212551918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9798120	chr2:212551928-212551929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11890038	chr2:212551978-212551979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371341784	chr2:212551979-212551980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559398202	chr2:212551985-212551986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112218119	chr2:212552008-212552009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34737849	chr2:212552030-212552031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212547200-212568600	Weak transcription	Fetal Kidney	kidney
2	chr2:212550400-212569000	Weak transcription	Fetal Heart	heart
3	chr2:212552000-212552400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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