Variant report

Variant	nsv972246
Chromosome Location	chr8:119195212-119200619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 228 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17451852	chr8:119195223-119195224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529075131	chr8:119195235-119195236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540720349	chr8:119195243-119195244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562341981	chr8:119195244-119195245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529443361	chr8:119195266-119195267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184539998	chr8:119195295-119195296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563001618	chr8:119195366-119195367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11992082	chr8:119195407-119195408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568871780	chr8:119195499-119195500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368752235	chr8:119195511-119195512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551008808	chr8:119195513-119195514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566122468	chr8:119195600-119195601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533676345	chr8:119195636-119195637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548785696	chr8:119195687-119195688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567476756	chr8:119195706-119195707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189469299	chr8:119195714-119195715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62534525	chr8:119195716-119195717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556429689	chr8:119195759-119195760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571403678	chr8:119195892-119195893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538929528	chr8:119195897-119195898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181218402	chr8:119195899-119195900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7822923	chr8:119195950-119195951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375998983	chr8:119195978-119195979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540758909	chr8:119195982-119195983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185714834	chr8:119196015-119196016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117350424	chr8:119196019-119196020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190478867	chr8:119196027-119196028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181624446	chr8:119196076-119196077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143378438	chr8:119196082-119196083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7839189	chr8:119196091-119196092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145383790	chr8:119196099-119196100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35186723	chr8:119196109-119196110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559747771	chr8:119196141-119196142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74721872	chr8:119196164-119196165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2514735	chr8:119196168-119196169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549080096	chr8:119196260-119196261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567207335	chr8:119196262-119196263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569863021	chr8:119196270-119196271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17480690	chr8:119196278-119196279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549754047	chr8:119196292-119196293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571455332	chr8:119196308-119196309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551228974	chr8:119196372-119196373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201581401	chr8:119196407-119196408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554086808	chr8:119196414-119196415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149730935	chr8:119196415-119196416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113133434	chr8:119196427-119196428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149036776	chr8:119196516-119196517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535687334	chr8:119196565-119196566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574098841	chr8:119196566-119196567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192349027	chr8:119196662-119196663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

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
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
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
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
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	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
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119193800-119202200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:119194000-119198000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:119194000-119198200	Weak transcription	Osteobl	bone
4	chr8:119194000-119202600	Weak transcription	Aorta	Aorta
5	chr8:119198000-119199000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:119198200-119199000	Enhancers	Osteobl	bone
7	chr8:119198200-119200000	Enhancers	HSMM	muscle
8	chr8:119198400-119200400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:119198600-119198800	Enhancers	NHDF-Ad	bronchial
10	chr8:119198600-119199200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:119198600-119199600	Enhancers	HSMMtube	muscle
12	chr8:119198600-119200200	Enhancers	HMEC	breast
13	chr8:119198600-119200400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:119198800-119199200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:119198800-119202400	Weak transcription	NHDF-Ad	bronchial
16	chr8:119199000-119199400	Enhancers	NH-A	brain
17	chr8:119199000-119199400	Flanking Active TSS	Osteobl	bone
18	chr8:119199000-119199600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:119199000-119199800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:119199000-119203800	Enhancers	Primary T cells from cord blood	blood
21	chr8:119199200-119199400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:119199200-119200800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:119199200-119206800	Enhancers	Thymus	Thymus
24	chr8:119199200-119207600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:119199400-119199600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:119199400-119200600	Enhancers	Osteobl	bone
27	chr8:119199400-119202800	Weak transcription	NH-A	brain
28	chr8:119199600-119199800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:119199600-119200800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:119199600-119201000	Enhancers	Liver	Liver
31	chr8:119199600-119206600	Enhancers	Fetal Thymus	thymus
32	chr8:119199600-119208000	Weak transcription	HSMMtube	muscle
33	chr8:119199800-119200400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr8:119199800-119200400	Enhancers	Adipose Nuclei	Adipose
35	chr8:119199800-119200800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:119199800-119201800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:119200000-119207200	Weak transcription	HSMM	muscle
38	chr8:119200000-119207600	Weak transcription	Pancreas	Pancrea
39	chr8:119200200-119202200	Weak transcription	HMEC	breast
40	chr8:119200400-119201800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:119200400-119201800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:119200400-119202400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:119200600-119201800	Weak transcription	Osteobl	bone

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