Variant report

Variant	nsv982082
Chromosome Location	chr8:90496018-90526984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90509802..90512432-chr8:90513213..90514927,2	MCF-7	breast:
2	chr8:90515684..90517302-chr8:90531815..90534034,2	MCF-7	breast:
3	chr8:90508884..90510843-chr8:90512576..90514659,2	K562	blood:
4	chr8:90508884..90510843-chr8:90512576..90514659,2	K562	blood:
5	chr8:90509802..90512432-chr8:90513213..90514927,2	MCF-7	breast:
6	chr8:90497830..90499463-chr8:90622312..90625050,2	MCF-7	breast:

Extended variants
information (count: 881 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34059260	chr8:90496053-90496054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530498952	chr8:90496108-90496109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549411925	chr8:90496120-90496121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141379650	chr8:90496138-90496139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549163607	chr8:90496151-90496152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569198312	chr8:90496153-90496154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73303847	chr8:90496208-90496209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531642069	chr8:90496226-90496227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186816721	chr8:90496238-90496239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138058161	chr8:90496245-90496246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191651676	chr8:90496314-90496315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539776895	chr8:90496318-90496319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539732115	chr8:90496320-90496321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557992280	chr8:90496333-90496334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28601654	chr8:90496380-90496381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75343790	chr8:90496401-90496402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34316942	chr8:90496442-90496443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113802635	chr8:90496477-90496478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555133612	chr8:90496483-90496484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573666015	chr8:90496488-90496489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111651788	chr8:90496565-90496566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537477063	chr8:90496585-90496586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555737906	chr8:90496613-90496614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577958043	chr8:90496670-90496671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149510559	chr8:90496673-90496674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77544647	chr8:90496680-90496681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572521834	chr8:90496699-90496700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147184069	chr8:90496713-90496714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561251362	chr8:90496765-90496766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531826417	chr8:90496816-90496817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550236716	chr8:90496871-90496872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565236061	chr8:90496890-90496891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533268603	chr8:90496909-90496910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551673020	chr8:90496919-90496920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550392881	chr8:90496943-90496944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7465159	chr8:90496967-90496968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533780714	chr8:90496998-90496999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140425260	chr8:90496999-90497000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2338805	chr8:90497029-90497030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115604499	chr8:90497194-90497195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142740294	chr8:90497228-90497229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577173674	chr8:90497255-90497256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538970614	chr8:90497301-90497302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147361401	chr8:90497325-90497326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572676385	chr8:90497363-90497364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555588927	chr8:90497408-90497409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542897976	chr8:90497423-90497424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11786729	chr8:90497514-90497515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576466345	chr8:90497550-90497551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35522295	chr8:90497564-90497565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90487200-90517600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90495800-90503400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:90497800-90498200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:90498800-90499200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:90498800-90499400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:90498800-90499600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:90498800-90499600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:90498800-90499600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:90498800-90499600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:90499200-90499800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:90499200-90501800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:90499400-90503000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:90506200-90506400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:90506400-90506600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:90506600-90511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:90516000-90516800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:90517600-90517800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:90517800-90518600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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