Variant report

Variant	esv3323643
Chromosome Location	chr8:104738026-104740524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553117563	chr8:104738059-104738060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571662017	chr8:104738106-104738107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143763694	chr8:104738174-104738175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558094880	chr8:104738210-104738211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371021367	chr8:104738267-104738268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544556193	chr8:104738275-104738276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12707793	chr8:104738283-104738284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543276050	chr8:104738303-104738304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555505265	chr8:104738317-104738318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534938838	chr8:104738324-104738325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573689375	chr8:104738367-104738368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541117375	chr8:104738421-104738422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558963084	chr8:104738427-104738428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190325656	chr8:104738507-104738508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555037428	chr8:104738558-104738559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181581003	chr8:104738595-104738596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78601667	chr8:104738608-104738609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376518754	chr8:104738654-104738655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186216001	chr8:104738691-104738692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12707794	chr8:104738886-104738887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528627412	chr8:104738959-104738960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547064307	chr8:104738968-104738969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191510926	chr8:104738969-104738970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183121674	chr8:104738971-104738972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12707795	chr8:104738973-104738974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113784233	chr8:104739041-104739042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569983113	chr8:104739093-104739094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537336923	chr8:104739113-104739114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555300700	chr8:104739116-104739117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7822017	chr8:104739129-104739130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187810940	chr8:104739179-104739180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190002857	chr8:104739219-104739220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577289323	chr8:104739235-104739236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183354641	chr8:104739243-104739244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142824555	chr8:104739255-104739256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575873495	chr8:104739294-104739295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545345911	chr8:104739351-104739352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187904615	chr8:104739441-104739442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146895267	chr8:104739471-104739472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191992753	chr8:104739496-104739497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1176682	chr8:104739529-104739530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139370638	chr8:104739643-104739644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532618346	chr8:104739679-104739680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572192757	chr8:104739686-104739687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142973399	chr8:104739709-104739710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185334764	chr8:104739750-104739751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536986033	chr8:104739792-104739793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187860237	chr8:104739827-104739828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192865719	chr8:104739841-104739842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373797605	chr8:104739855-104739856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104731600-104738600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:104736200-104743000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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