Variant report

Variant	esv3450841
Chromosome Location	chr2:186364350-186364700
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	chr2:186357997..186360182-chr2:186363444..186366189,2	MCF-7	breast:
2	chr2:186359864..186363240-chr2:186363578..186366648,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1424527	chr2:186364350-186364351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572645173	chr2:186364408-186364409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540348987	chr2:186364464-186364465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187945627	chr2:186364518-186364519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568747654	chr2:186364550-186364551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192417366	chr2:186364572-186364573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183776652	chr2:186364636-186364637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560745519	chr2:186364648-186364649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377474782	chr2:186364668-186364669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562497387	chr2:186364679-186364680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186342800-186368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:186359200-186368200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:186359400-186364800	Weak transcription	HMEC	breast
4	chr2:186359400-186367200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:186359600-186368000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:186359800-186393400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:186361400-186368000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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