Variant report

Variant	esv3400808
Chromosome Location	chr2:185512771-185513169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190091565	chr2:185512790-185512791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147793252	chr2:185512791-185512792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13021843	chr2:185512838-185512839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs141374460	chr2:185512843-185512844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562843708	chr2:185512844-185512845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183600373	chr2:185512881-185512882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12998346	chr2:185512920-185512921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545434885	chr2:185512961-185512962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560377099	chr2:185513007-185513008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527924211	chr2:185513019-185513020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572893513	chr2:185513032-185513033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188501266	chr2:185513080-185513081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72897799	chr2:185513142-185513143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
low-grade B-cell lymphoma tumor	18367492	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
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185511200-185519600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:185511400-185513200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:185512600-185512800	Enhancers	Fetal Intestine Small	intestine

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