Variant report

Variant	esv3343657
Chromosome Location	chr2:180468768-180469264
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	chr2:180466180..180468206-chr2:180468630..180471085,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375150003	chr2:180468819-180468820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11688721	chr2:180468881-180468882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374654917	chr2:180468914-180468915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377715238	chr2:180468948-180468949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576300716	chr2:180468954-180468955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556686970	chr2:180469010-180469011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545401186	chr2:180469079-180469080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145223470	chr2:180469102-180469103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570255167	chr2:180469140-180469141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530635408	chr2:180469151-180469152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555774272	chr2:180469247-180469248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180461400-180470400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:180467600-180472000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:180468600-180471800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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