Variant report

Variant	esv3436621
Chromosome Location	chr2:187102007-187103205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536686357	chr2:187102050-187102051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555099528	chr2:187102056-187102057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576509848	chr2:187102058-187102059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532346273	chr2:187102078-187102079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544492971	chr2:187102095-187102096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140327833	chr2:187102101-187102102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73033500	chr2:187102108-187102109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577783035	chr2:187102117-187102118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116511799	chr2:187102242-187102243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560023518	chr2:187102249-187102250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571696073	chr2:187102301-187102302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542260728	chr2:187102304-187102305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560636327	chr2:187102317-187102318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531403337	chr2:187102354-187102355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3112308	chr2:187102392-187102393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554498570	chr2:187102401-187102402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111934838	chr2:187102405-187102406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565566395	chr2:187102415-187102416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377227845	chr2:187102417-187102418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556839728	chr2:187102439-187102440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552546228	chr2:187102447-187102448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561602058	chr2:187102450-187102451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564812019	chr2:187102451-187102452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560485830	chr2:187102454-187102455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569206283	chr2:187102459-187102460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532606894	chr2:187102460-187102461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570459918	chr2:187102461-187102462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13424471	chr2:187102468-187102469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566423951	chr2:187102487-187102488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111232573	chr2:187102500-187102501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111883957	chr2:187102563-187102564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536627677	chr2:187102675-187102676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548635961	chr2:187102713-187102714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183248103	chr2:187102739-187102740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62197196	chr2:187102871-187102872	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370110907	chr2:187102873-187102874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187902534	chr2:187102883-187102884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559320805	chr2:187102887-187102888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577723653	chr2:187102916-187102917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538483642	chr2:187102918-187102919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553645111	chr2:187102921-187102922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13414293	chr2:187102977-187102978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571020008	chr2:187102984-187102985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138061385	chr2:187103050-187103051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554523860	chr2:187103139-187103140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575954154	chr2:187103162-187103163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187091800-187105400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187102800-187103200	Enhancers	HUES48 Cell Line	embryonic stem cell

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