Variant report

Variant	nsv967540
Chromosome Location	chr8:113605317-113614329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 328 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539232985	chr8:113605371-113605372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146554290	chr8:113605376-113605377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373938389	chr8:113605398-113605399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549342344	chr8:113605434-113605435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs16883861	chr8:113605478-113605479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557019146	chr8:113605503-113605504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573572400	chr8:113605506-113605507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11996233	chr8:113605514-113605515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538768999	chr8:113605521-113605522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551300707	chr8:113605555-113605556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552601258	chr8:113605605-113605606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540279042	chr8:113605615-113605616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140015044	chr8:113605620-113605621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144169671	chr8:113605640-113605641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564684311	chr8:113605644-113605645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571391012	chr8:113605685-113605686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371373714	chr8:113605695-113605696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375971226	chr8:113605701-113605702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16883864	chr8:113605703-113605704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs61631152	chr8:113605747-113605748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377594616	chr8:113605767-113605768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549311749	chr8:113605783-113605784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553416869	chr8:113605792-113605793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549420663	chr8:113605812-113605813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566567242	chr8:113605815-113605816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200826593	chr8:113605846-113605847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6993802	chr8:113605855-113605856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187701186	chr8:113605881-113605882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192797192	chr8:113605883-113605884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184339694	chr8:113605931-113605932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187693773	chr8:113605936-113605937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151008779	chr8:113605947-113605948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192730061	chr8:113605953-113605954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567226225	chr8:113605972-113605973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369659276	chr8:113605975-113605976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117666934	chr8:113606038-113606039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572537832	chr8:113606088-113606089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184039939	chr8:113606125-113606126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4492408	chr8:113606128-113606129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12542463	chr8:113606137-113606138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs578094889	chr8:113606141-113606142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189164971	chr8:113606143-113606144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370980746	chr8:113606151-113606152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563983307	chr8:113606166-113606167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4258032	chr8:113606202-113606203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543377442	chr8:113606233-113606234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559762791	chr8:113606264-113606265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372594863	chr8:113606270-113606271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545473503	chr8:113606272-113606273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565243299	chr8:113606293-113606294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113594600-113623800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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