Variant report

Variant	esv3354580
Chromosome Location	chr8:114600076-114604474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73701622	chr8:114600096-114600097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569608624	chr8:114600098-114600099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535080481	chr8:114600102-114600103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4384009	chr8:114600110-114600111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575147815	chr8:114600180-114600181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534500853	chr8:114600181-114600182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554405669	chr8:114600188-114600189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369996339	chr8:114600205-114600206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577555085	chr8:114600284-114600285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546263194	chr8:114600310-114600311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562869614	chr8:114600314-114600315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188455724	chr8:114600316-114600317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73701623	chr8:114600367-114600368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561749361	chr8:114600368-114600369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527576304	chr8:114600429-114600430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12334661	chr8:114600437-114600438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191984489	chr8:114600448-114600449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533005969	chr8:114600469-114600470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549967350	chr8:114600511-114600512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537235067	chr8:114600523-114600524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535549366	chr8:114600656-114600657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548954062	chr8:114600687-114600688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139542435	chr8:114600693-114600694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116961338	chr8:114600694-114600695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7010793	chr8:114600819-114600820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs60837504	chr8:114600847-114600848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539618043	chr8:114600855-114600856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201531413	chr8:114600858-114600859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80156404	chr8:114600872-114600873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576411275	chr8:114600909-114600910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553314411	chr8:114600910-114600911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182465501	chr8:114600922-114600923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561735226	chr8:114600941-114600942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546075329	chr8:114600943-114600944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564161401	chr8:114600995-114600996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572140511	chr8:114601000-114601001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540901826	chr8:114601010-114601011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187159587	chr8:114601014-114601015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533275497	chr8:114601065-114601066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549672076	chr8:114601068-114601069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563502370	chr8:114601102-114601103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572753653	chr8:114601107-114601108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191267840	chr8:114601119-114601120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145571367	chr8:114601137-114601138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140371364	chr8:114601175-114601176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528121952	chr8:114601190-114601191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551418631	chr8:114601201-114601202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183631872	chr8:114601263-114601264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540128593	chr8:114601300-114601301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556475958	chr8:114601378-114601379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114599400-114607400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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