Variant report

Variant	nsv528585
Chromosome Location	chr8:132255472-132256944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11777860	chr8:132255472-132255473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552710480	chr8:132255488-132255489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553253213	chr8:132255547-132255548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577530131	chr8:132255564-132255565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544873921	chr8:132255566-132255567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144217911	chr8:132255600-132255601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540984989	chr8:132255621-132255622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576414342	chr8:132255654-132255655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578096520	chr8:132255726-132255727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562256609	chr8:132255763-132255764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559972166	chr8:132255800-132255801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115252229	chr8:132255801-132255802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541652677	chr8:132255841-132255842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369633673	chr8:132255846-132255847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62535167	chr8:132255858-132255859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs62535168	chr8:132255862-132255863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570246821	chr8:132255874-132255875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370397887	chr8:132255913-132255914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182492759	chr8:132255930-132255931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116964566	chr8:132255936-132255937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567366674	chr8:132255953-132255954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62535169	chr8:132255980-132255981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552769026	chr8:132256006-132256007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138766704	chr8:132256028-132256029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538428710	chr8:132256056-132256057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557262464	chr8:132256058-132256059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575446038	chr8:132256081-132256082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552178296	chr8:132256099-132256100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375404684	chr8:132256100-132256101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112702184	chr8:132256124-132256125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141802803	chr8:132256125-132256126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79778037	chr8:132256133-132256134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562221155	chr8:132256141-132256142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191489343	chr8:132256156-132256157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116252450	chr8:132256176-132256177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139348347	chr8:132256180-132256181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564014296	chr8:132256211-132256212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142608630	chr8:132256241-132256242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150544247	chr8:132256247-132256248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560691343	chr8:132256299-132256300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73718610	chr8:132256327-132256328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546320883	chr8:132256330-132256331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73343736	chr8:132256333-132256334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376965399	chr8:132256346-132256347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549597718	chr8:132256358-132256359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541217235	chr8:132256359-132256360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538493551	chr8:132256372-132256373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550455374	chr8:132256376-132256377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569141946	chr8:132256383-132256384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377084171	chr8:132256404-132256405	Weak transcription	n/a	n/a	Overlapped CNVs	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132253800-132259000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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