Variant report

Variant	nsv972535
Chromosome Location	chr8:132261309-132281832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 273 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553417138	chr8:132261325-132261326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs72716488	chr8:132261330-132261331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548201854	chr8:132261332-132261333	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs6470916	chr8:132261335-132261336	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149294683	chr8:132261379-132261380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575495339	chr8:132261393-132261394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542228334	chr8:132261418-132261419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs114733921	chr8:132261420-132261421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147386913	chr8:132261436-132261437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs139532883	chr8:132261496-132261497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564983337	chr8:132261512-132261513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532253009	chr8:132261519-132261520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs143440567	chr8:132261533-132261534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs147130926	chr8:132261539-132261540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148587928	chr8:132261550-132261551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546633507	chr8:132261552-132261553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs35671958	chr8:132261563-132261564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548482972	chr8:132261566-132261567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142950270	chr8:132261628-132261629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116946492	chr8:132261651-132261652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs553240347	chr8:132261677-132261678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs4304315	chr8:132261701-132261702	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs180893494	chr8:132261716-132261717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557493138	chr8:132261722-132261723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs371247958	chr8:132261745-132261746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575100772	chr8:132261765-132261766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs201313003	chr8:132261777-132261778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs151114294	chr8:132261788-132261789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs377439273	chr8:132262013-132262014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550817358	chr8:132262039-132262040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554309951	chr8:132262049-132262050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143778035	chr8:132262083-132262084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548544843	chr8:132262122-132262123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572831727	chr8:132262131-132262132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570574846	chr8:132262168-132262169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186953007	chr8:132262170-132262171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571668469	chr8:132262171-132262172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566897044	chr8:132262203-132262204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191786517	chr8:132262214-132262215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369266533	chr8:132262223-132262224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373444013	chr8:132262242-132262243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550773062	chr8:132262243-132262244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140582758	chr8:132262263-132262264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182015927	chr8:132262264-132262265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572399483	chr8:132262271-132262272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145644744	chr8:132262280-132262281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73343753	chr8:132262281-132262282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186510253	chr8:132262282-132262283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374860003	chr8:132262293-132262294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558498736	chr8:132262322-132262323	Enhancers	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132259000-132261800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:132262000-132262600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:132262000-132262800	Enhancers	HMEC	breast
4	chr8:132262200-132262600	Enhancers	GM12878-XiMat	blood
5	chr8:132262600-132262800	Flanking Active TSS	GM12878-XiMat	blood
6	chr8:132262600-132263400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr8:132262800-132263000	Active TSS	GM12878-XiMat	blood
8	chr8:132272600-132274600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:132273600-132274600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr8:132273600-132274800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:132281800-132282200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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