Variant report

Variant	nsv612051
Chromosome Location	chr8:120019593-120022486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386729208	chr8:120019593-120019594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57733873	chr8:120019594-120019595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555449485	chr8:120019627-120019628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113474237	chr8:120019641-120019642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568028796	chr8:120019646-120019647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186950761	chr8:120019650-120019651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1905776	chr8:120019652-120019653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544845047	chr8:120019660-120019661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564252180	chr8:120019700-120019701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556565241	chr8:120019723-120019724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528521916	chr8:120019740-120019741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191745942	chr8:120019760-120019761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561786034	chr8:120019796-120019797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375911409	chr8:120019799-120019800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182321868	chr8:120019811-120019812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551282628	chr8:120019888-120019889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569421416	chr8:120019920-120019921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533589209	chr8:120019965-120019966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368847979	chr8:120020032-120020033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570049048	chr8:120020056-120020057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551962383	chr8:120020068-120020069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7822098	chr8:120020129-120020130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533915881	chr8:120020167-120020168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549536914	chr8:120020240-120020241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12677367	chr8:120020383-120020384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75864048	chr8:120020406-120020407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535208732	chr8:120020437-120020438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12681528	chr8:120020494-120020495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577823300	chr8:120020513-120020514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34112966	chr8:120020529-120020530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117017396	chr8:120020544-120020545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374206479	chr8:120020567-120020568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538831280	chr8:120020584-120020585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553599442	chr8:120020594-120020595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12679567	chr8:120020609-120020610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540360048	chr8:120020718-120020719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367759809	chr8:120020719-120020720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561821638	chr8:120020725-120020726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143409604	chr8:120020728-120020729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78849856	chr8:120020730-120020731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142900156	chr8:120020736-120020737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191096447	chr8:120020737-120020738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533411833	chr8:120020748-120020749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76327429	chr8:120020749-120020750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182127470	chr8:120020752-120020753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558066155	chr8:120020767-120020768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186809234	chr8:120020770-120020771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576430401	chr8:120020781-120020782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190239101	chr8:120020786-120020787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567217766	chr8:120020814-120020815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

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
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	22014070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120018000-120019600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:120019600-120021000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:120021000-120021200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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