Variant report

Variant	nsv967545
Chromosome Location	chr8:132239662-132250109
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	chr8:132249911..132252163-chr8:132258560..132261164,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75697825	chr8:132239664-132239665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535408311	chr8:132239720-132239721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554076652	chr8:132239739-132239740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72716479	chr8:132239752-132239753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs57710858	chr8:132239853-132239854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377088075	chr8:132239854-132239855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540675797	chr8:132239859-132239860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397955691	chr8:132239869-132239870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146585361	chr8:132239884-132239885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577273950	chr8:132240030-132240031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141282859	chr8:132240059-132240060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562962388	chr8:132240060-132240061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530278087	chr8:132240078-132240079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187820761	chr8:132240103-132240104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6983194	chr8:132240118-132240119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560443075	chr8:132240123-132240124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13278921	chr8:132240131-132240132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555263680	chr8:132240140-132240141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527977016	chr8:132240173-132240174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551796644	chr8:132240193-132240194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369409667	chr8:132241673-132241674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372008222	chr8:132241688-132241689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536937409	chr8:132241689-132241690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74347837	chr8:132241691-132241692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568067544	chr8:132241694-132241695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542214738	chr8:132241775-132241776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535577544	chr8:132241794-132241795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553816773	chr8:132241910-132241911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72233851	chr8:132241939-132241940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572195529	chr8:132241943-132241944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199578557	chr8:132241944-132241945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367602765	chr8:132241953-132241954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534395187	chr8:132241965-132241966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201157782	chr8:132241968-132241969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200776087	chr8:132241970-132241971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540055756	chr8:132241979-132241980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113899038	chr8:132241980-132241981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71306310	chr8:132241981-132241982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12680518	chr8:132241982-132241983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558056919	chr8:132241983-132241984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35931050	chr8:132241984-132241985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34246784	chr8:132241986-132241987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138740894	chr8:132242025-132242026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543709087	chr8:132242057-132242058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34247261	chr8:132242087-132242088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186122992	chr8:132242114-132242115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573644011	chr8:132242132-132242133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190976678	chr8:132242136-132242137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141183501	chr8:132242149-132242150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12676393	chr8:132242154-132242155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:136)

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
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
Acute myeloid leukemia	20729466	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
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
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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	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
Malignant melanoma	17260012	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132239400-132240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:132241600-132242600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:132250000-132250600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links