Variant report

Variant	esv3369864
Chromosome Location	chr2:189679107-189683905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193195979	chr2:189679114-189679115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571036912	chr2:189679126-189679127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184285106	chr2:189679142-189679143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551801025	chr2:189679174-189679175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147929463	chr2:189679194-189679195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567006670	chr2:189679216-189679217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6757283	chr2:189679377-189679378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527521081	chr2:189679488-189679489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200812872	chr2:189679511-189679512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73978555	chr2:189679537-189679538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13385146	chr2:189679556-189679557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573920819	chr2:189679557-189679558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538078585	chr2:189679576-189679577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555829864	chr2:189679637-189679638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72906646	chr2:189679685-189679686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565207978	chr2:189679742-189679743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143035760	chr2:189679772-189679773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146133286	chr2:189679787-189679788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531582059	chr2:189679795-189679796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140110815	chr2:189679834-189679835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572211658	chr2:189679864-189679865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77700970	chr2:189679941-189679942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561053007	chr2:189679946-189679947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77512368	chr2:189679972-189679973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188656863	chr2:189679987-189679988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562967703	chr2:189680011-189680012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115684863	chr2:189680014-189680015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551449503	chr2:189680041-189680042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115353028	chr2:189680056-189680057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60602630	chr2:189680091-189680092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181095185	chr2:189680124-189680125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567657601	chr2:189680146-189680147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538043841	chr2:189680160-189680161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556338590	chr2:189680184-189680185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77724182	chr2:189680243-189680244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73978557	chr2:189680246-189680247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554210117	chr2:189680296-189680297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553461378	chr2:189680356-189680357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571984596	chr2:189680357-189680358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16830654	chr2:189680370-189680371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7609094	chr2:189680378-189680379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146440559	chr2:189680478-189680479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558673017	chr2:189680482-189680483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117105513	chr2:189680490-189680491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185137236	chr2:189680510-189680511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533433769	chr2:189680548-189680549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545509620	chr2:189680557-189680558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72906650	chr2:189680625-189680626	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540075875	chr2:189680647-189680648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57351486	chr2:189680651-189680652	Weak transcription Enhancers	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
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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189675600-189679200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:189677400-189679200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:189677400-189679200	Enhancers	HSMM	muscle
4	chr2:189677400-189680000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:189677800-189679200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:189677800-189683400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:189678800-189679200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:189679000-189679600	Enhancers	Osteobl	bone
9	chr2:189679000-189680200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:189679200-189680400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:189679200-189684400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:189679600-189683800	Weak transcription	Osteobl	bone
13	chr2:189680400-189681000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:189682600-189685600	Enhancers	Primary T cells from cord blood	blood
15	chr2:189683400-189683800	Enhancers	Placenta	Placenta
16	chr2:189683400-189685000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:189683400-189685200	Enhancers	Dnd41	blood
18	chr2:189683400-189685400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:189683400-189685400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:189683400-189685600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:189683800-189684000	Weak transcription	Placenta	Placenta
22	chr2:189683800-189685000	Enhancers	Osteobl	bone
23	chr2:189683800-189685400	Enhancers	Hela-S3	cervix

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