Variant report

Variant	esv6381
Chromosome Location	chr2:231500652-231500840
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	chr2:231500189..231501734-chr2:231506652..231509496,2	K562	blood:
2	chr2:231500020..231501734-chr2:231507996..231510394,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372896213	chr2:231500673-231500674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190039719	chr2:231500684-231500685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573237114	chr2:231500706-231500707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60334322	chr2:231500761-231500762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34804797	chr2:231500767-231500768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10804368	chr2:231500805-231500806	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114999783	chr2:231500816-231500817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10804369	chr2:231500823-231500824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
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
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231500600-231500800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr2:231500600-231501400	Enhancers	GM12878-XiMat	blood
3	chr2:231500600-231502200	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:231500600-231502200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:231500800-231507000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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