Variant report

Variant	nsv612059
Chromosome Location	chr8:120109657-120111657
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	chr8:120110109..120113064-chr8:120180138..120182197,2	K562	blood:
2	chr8:120097671..120100491-chr8:120108931..120111422,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 139 )

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	rs571025556	chr8:120109658-120109659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77756271	chr8:120109677-120109678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553321837	chr8:120109681-120109682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574690834	chr8:120109689-120109690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369858517	chr8:120109698-120109699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543014156	chr8:120109701-120109702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556599323	chr8:120109707-120109708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11997911	chr8:120109708-120109709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545453538	chr8:120109723-120109724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564420634	chr8:120109765-120109766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573088009	chr8:120109790-120109791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540497938	chr8:120109887-120109888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75529702	chr8:120109888-120109889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529087325	chr8:120109904-120109905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186654848	chr8:120109906-120109907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563746102	chr8:120109917-120109918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530953904	chr8:120109918-120109919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552324756	chr8:120109940-120109941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570805715	chr8:120109941-120109942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535054875	chr8:120109948-120109949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145449767	chr8:120109967-120109968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568326259	chr8:120109986-120109987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16891997	chr8:120109987-120109988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148836824	chr8:120109996-120109997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568824740	chr8:120110001-120110002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191722067	chr8:120110029-120110030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557495060	chr8:120110073-120110074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16891999	chr8:120110087-120110088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540196618	chr8:120110096-120110097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555657215	chr8:120110099-120110100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562855769	chr8:120110104-120110105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142682850	chr8:120110113-120110114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544389330	chr8:120110116-120110117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565461794	chr8:120110128-120110129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562660823	chr8:120110171-120110172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146519775	chr8:120110198-120110199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372989787	chr8:120110201-120110202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140959287	chr8:120110277-120110278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546277491	chr8:120110298-120110299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376953047	chr8:120110325-120110326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564365598	chr8:120110347-120110348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532768516	chr8:120110448-120110449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528447142	chr8:120110457-120110458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546892653	chr8:120110498-120110499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116054574	chr8:120110514-120110515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370304266	chr8:120110521-120110522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182928301	chr8:120110544-120110545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187559585	chr8:120110546-120110547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569410365	chr8:120110558-120110559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368578265	chr8:120110593-120110594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
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
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	17603634	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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120103800-120117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:120105600-120114800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:120106800-120111200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:120107000-120111400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:120107000-120111400	Weak transcription	Osteobl	bone
6	chr8:120111200-120112000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:120111200-120112000	Enhancers	HMEC	breast
8	chr8:120111200-120112000	Enhancers	NHEK	skin
9	chr8:120111200-120112600	Enhancers	NHDF-Ad	bronchial
10	chr8:120111400-120112000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:120111400-120112000	Enhancers	Osteobl	bone
12	chr8:120111400-120112200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:120111600-120112000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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