Variant report

Variant	nsv967626
Chromosome Location	chr8:113601121-113602976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:112878252..112879995-chr8:113601916..113604196,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183410515	chr8:113601180-113601181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540364016	chr8:113601181-113601182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551573389	chr8:113601229-113601230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376176237	chr8:113601232-113601233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4480145	chr8:113601246-113601247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532222607	chr8:113601252-113601253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140425856	chr8:113601323-113601324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569066860	chr8:113601326-113601327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187206375	chr8:113601331-113601332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373228536	chr8:113601373-113601374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547898287	chr8:113601385-113601386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568112974	chr8:113601395-113601396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533856310	chr8:113601564-113601565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553936220	chr8:113601569-113601570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559657432	chr8:113601610-113601611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192526249	chr8:113601630-113601631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184571294	chr8:113601695-113601696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559161389	chr8:113601731-113601732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186724801	chr8:113601733-113601734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192233285	chr8:113601734-113601735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544562580	chr8:113601747-113601748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113617656	chr8:113601769-113601770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375293596	chr8:113601828-113601829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72676674	chr8:113601833-113601834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574523167	chr8:113601879-113601880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529235597	chr8:113601894-113601895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540328761	chr8:113601947-113601948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369583355	chr8:113601994-113601995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9918773	chr8:113602017-113602018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532134142	chr8:113602092-113602093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145533693	chr8:113602117-113602118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145020488	chr8:113602186-113602187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564019827	chr8:113602192-113602193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531522482	chr8:113602198-113602199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548497154	chr8:113602235-113602236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189535073	chr8:113602285-113602286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570114342	chr8:113602349-113602350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9918776	chr8:113602386-113602387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547504239	chr8:113602434-113602435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182182004	chr8:113602445-113602446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539186608	chr8:113602446-113602447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552515010	chr8:113602459-113602460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149082822	chr8:113602470-113602471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs16883855	chr8:113602480-113602481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555293205	chr8:113602488-113602489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574484405	chr8:113602502-113602503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533943636	chr8:113602515-113602516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530994159	chr8:113602549-113602550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550692333	chr8:113602550-113602551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34149432	chr8:113602558-113602559	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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