Variant report

Variant	nsv972596
Chromosome Location	chr8:111788240-111793793
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	chr8:111781609..111784016-chr8:111789603..111791637,2	MCF-7	breast:

Extended variants
information (count: 209 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:209 , 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	rs539455202	chr8:111788617-111788618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76908244	chr8:111788626-111788627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184796330	chr8:111788653-111788654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578000272	chr8:111788656-111788657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6987251	chr8:111788717-111788718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114812787	chr8:111788722-111788723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541294211	chr8:111788739-111788740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527428799	chr8:111788795-111788796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190002329	chr8:111788851-111788852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549040784	chr8:111788853-111788854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577132374	chr8:111788953-111788954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578039160	chr8:111788961-111788962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540209061	chr8:111788981-111788982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111712760	chr8:111789001-111789002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10283219	chr8:111789052-111789053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs151155772	chr8:111789064-111789065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540565848	chr8:111789095-111789096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140045883	chr8:111789113-111789114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562291243	chr8:111789118-111789119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527903129	chr8:111789155-111789156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181263072	chr8:111789207-111789208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529530711	chr8:111789229-111789230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551156319	chr8:111789231-111789232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369478592	chr8:111789237-111789238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549802173	chr8:111789262-111789263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186201926	chr8:111789270-111789271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535530338	chr8:111789275-111789276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542956433	chr8:111789284-111789285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28708482	chr8:111789364-111789365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572176150	chr8:111789373-111789374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534531558	chr8:111789388-111789389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557989316	chr8:111789511-111789512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569575406	chr8:111789516-111789517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577519154	chr8:111789520-111789521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112375815	chr8:111789528-111789529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114015322	chr8:111789568-111789569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369297305	chr8:111789577-111789578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557610240	chr8:111789596-111789597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576061160	chr8:111789680-111789681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541893952	chr8:111789682-111789683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189008224	chr8:111789709-111789710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4529438	chr8:111789749-111789750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs4510831	chr8:111789769-111789770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571287194	chr8:111789781-111789782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373405176	chr8:111789783-111789784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527416459	chr8:111789805-111789806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547394339	chr8:111789820-111789821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567304345	chr8:111789828-111789829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533660415	chr8:111789831-111789832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536541028	chr8:111789869-111789870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111788600-111826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:111791600-111792000	Active TSS	Primary hematopoietic stem cells	blood

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