Variant report

Variant	nsv527336
Chromosome Location	chr8:115863500-115866116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10093354	chr8:115863500-115863501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367779396	chr8:115863503-115863504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72674430	chr8:115863518-115863519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546816324	chr8:115863580-115863581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115068510	chr8:115863597-115863598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558040903	chr8:115863649-115863650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535925083	chr8:115863651-115863652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77518314	chr8:115863673-115863674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13266337	chr8:115863705-115863706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146274422	chr8:115863730-115863731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140010228	chr8:115863732-115863733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191778038	chr8:115863827-115863828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558708636	chr8:115863849-115863850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541005046	chr8:115863875-115863876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552677663	chr8:115863906-115863907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572317073	chr8:115863936-115863937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79754528	chr8:115863943-115863944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541486452	chr8:115863971-115863972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182896918	chr8:115864017-115864018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143608883	chr8:115864029-115864030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146810875	chr8:115864078-115864079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573808641	chr8:115864083-115864084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139320990	chr8:115864121-115864122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528507266	chr8:115864136-115864137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150034800	chr8:115864140-115864141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377055501	chr8:115864217-115864218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529416398	chr8:115864235-115864236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13439575	chr8:115864309-115864310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186861968	chr8:115864354-115864355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540013451	chr8:115864452-115864453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76953335	chr8:115864486-115864487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531140390	chr8:115864516-115864517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544435057	chr8:115864532-115864533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191771226	chr8:115864544-115864545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72674432	chr8:115864545-115864546	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552562499	chr8:115864579-115864580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574053115	chr8:115864602-115864603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182125852	chr8:115864630-115864631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557405464	chr8:115864741-115864742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74716906	chr8:115864745-115864746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187710873	chr8:115864762-115864763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145374201	chr8:115864763-115864764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79352241	chr8:115864788-115864789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573108096	chr8:115864823-115864824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77256440	chr8:115864848-115864849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149193296	chr8:115864908-115864909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562067452	chr8:115864912-115864913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113953159	chr8:115864936-115864937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529302559	chr8:115864960-115864961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551134073	chr8:115864974-115864975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Bipolar disorder	19114987	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115862600-115863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:115863600-115866000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:115863800-115864400	Enhancers	HSMMtube	muscle
4	chr8:115863800-115864600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:115864400-115867800	Weak transcription	HSMMtube	muscle
6	chr8:115864600-115868000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:115866000-115867800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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