Variant report

Variant	esv11909
Chromosome Location	chr7:149862533-149882792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555802386	chr7:149866024-149866025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186214485	chr7:149866025-149866026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191963736	chr7:149866044-149866045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10952246	chr7:149866103-149866104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6464052	chr7:149866114-149866115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182420975	chr7:149866122-149866123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6464053	chr7:149866157-149866158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528859644	chr7:149866166-149866167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376732259	chr7:149866172-149866173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565749818	chr7:149866198-149866199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531907775	chr7:149866209-149866210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185754008	chr7:149866219-149866220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376806104	chr7:149866236-149866237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191109475	chr7:149866282-149866283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369681824	chr7:149866286-149866287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536955002	chr7:149866295-149866296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6959285	chr7:149866298-149866299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370444180	chr7:149866322-149866323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569736370	chr7:149866334-149866335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565463773	chr7:149866341-149866342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148678150	chr7:149866360-149866361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547884960	chr7:149866389-149866390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528308047	chr7:149873000-149873001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114652621	chr7:149873032-149873033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7797083	chr7:149873069-149873070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564688880	chr7:149873106-149873107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188169841	chr7:149873113-149873114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73170159	chr7:149873160-149873161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147893731	chr7:149873164-149873165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192795226	chr7:149873175-149873176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140000333	chr7:149873180-149873181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144360630	chr7:149873191-149873192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555219375	chr7:149873248-149873249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185241476	chr7:149873358-149873359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187403019	chr7:149873359-149873360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10255152	chr7:149873373-149873374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543904804	chr7:149873405-149873406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537766218	chr7:149873406-149873407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557345901	chr7:149873445-149873446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573612716	chr7:149873496-149873497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542245640	chr7:149873511-149873512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552694074	chr7:149873586-149873587	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149866000-149866400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:149873000-149873600	Enhancers	NHEK	skin

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