Variant report

Variant	esv3376209
Chromosome Location	chr2:177806206-177806620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536288827	chr2:177806233-177806234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188189047	chr2:177806247-177806248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567981772	chr2:177806263-177806264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192502298	chr2:177806279-177806280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369271891	chr2:177806294-177806295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371913153	chr2:177806306-177806307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376536912	chr2:177806381-177806382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553303475	chr2:177806390-177806391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552651023	chr2:177806394-177806395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143530693	chr2:177806470-177806471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531180967	chr2:177806484-177806485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544828006	chr2:177806495-177806496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6715148	chr2:177806514-177806515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533068182	chr2:177806552-177806553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546405634	chr2:177806583-177806584	Enhancers	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
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177805200-177806600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:177806200-177806400	Enhancers	GM12878-XiMat	blood

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