Variant report

Variant	nsv527615
Chromosome Location	chr8:19512537-19514934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4922078	chr8:19512537-19512538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141290899	chr8:19512539-19512540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145036090	chr8:19512544-19512545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186083543	chr8:19512547-19512548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369751008	chr8:19512561-19512562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190986319	chr8:19512611-19512612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138045359	chr8:19512616-19512617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532980086	chr8:19512640-19512641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376806024	chr8:19512645-19512646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546587137	chr8:19512681-19512682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566401353	chr8:19512701-19512702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149497856	chr8:19512754-19512755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555210378	chr8:19512782-19512783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180726008	chr8:19512788-19512789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537245949	chr8:19512795-19512796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143189745	chr8:19512802-19512803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369545846	chr8:19512859-19512860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148269805	chr8:19512867-19512868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376585948	chr8:19512898-19512899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185024443	chr8:19512937-19512938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537394642	chr8:19512974-19512975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141174020	chr8:19512995-19512996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552902383	chr8:19513034-19513035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190894854	chr8:19513036-19513037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541759333	chr8:19513045-19513046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150177808	chr8:19513053-19513054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369486997	chr8:19513059-19513060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149931190	chr8:19513060-19513061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145699246	chr8:19513062-19513063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs66911321	chr8:19513064-19513065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575422254	chr8:19513066-19513067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375886923	chr8:19513071-19513072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7835820	chr8:19513072-19513073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117311027	chr8:19513073-19513074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372331308	chr8:19513074-19513075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369838466	chr8:19513076-19513077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199657088	chr8:19513077-19513078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143803383	chr8:19513078-19513079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149150974	chr8:19513080-19513081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs137974899	chr8:19513082-19513083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141819044	chr8:19513089-19513090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377123745	chr8:19513090-19513091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs66802003	chr8:19513091-19513092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78984713	chr8:19513092-19513093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76440164	chr8:19513094-19513095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544063060	chr8:19513102-19513103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564224123	chr8:19513161-19513162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533031819	chr8:19513168-19513169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546621878	chr8:19513182-19513183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113727809	chr8:19513194-19513195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Prostate cancer	22341455	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19500400-19519600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:19503000-19513600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:19503400-19518200	Weak transcription	Primary B cells from cord blood	blood
5	chr8:19503400-19521000	Weak transcription	Pancreas	Pancrea
6	chr8:19508400-19519800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:19508600-19512600	Weak transcription	Placenta	Placenta
8	chr8:19508600-19513400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:19509200-19519800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:19510000-19513400	Weak transcription	Primary T cells from cord blood	blood
11	chr8:19510600-19512800	Enhancers	NHLF	lung
12	chr8:19510600-19520600	Weak transcription	Fetal Brain Male	brain
13	chr8:19510800-19514400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:19511000-19512800	Enhancers	Hela-S3	cervix
15	chr8:19511000-19512800	Enhancers	NHDF-Ad	bronchial
16	chr8:19511200-19518600	Weak transcription	Right Atrium	heart
17	chr8:19511200-19521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:19511600-19512600	Weak transcription	Right Ventricle	heart
19	chr8:19511600-19514000	Weak transcription	Lung	lung
20	chr8:19511600-19517200	Weak transcription	Left Ventricle	heart
21	chr8:19511600-19519800	Weak transcription	Fetal Stomach	stomach
22	chr8:19512000-19514200	Enhancers	A549	lung
23	chr8:19512000-19520400	Weak transcription	NH-A	brain
24	chr8:19512200-19517200	Weak transcription	Osteobl	bone
25	chr8:19512200-19520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:19512200-19522400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:19512400-19512800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:19512400-19516800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:19512400-19518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:19512400-19518800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:19512400-19521000	Weak transcription	Aorta	Aorta
32	chr8:19512600-19512800	Enhancers	Placenta	Placenta
33	chr8:19512600-19513000	Enhancers	Right Ventricle	heart
34	chr8:19512800-19513200	Weak transcription	Placenta	Placenta
35	chr8:19512800-19513800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:19512800-19514800	Weak transcription	Hela-S3	cervix
37	chr8:19512800-19517200	Weak transcription	NHDF-Ad	bronchial
38	chr8:19513000-19517200	Weak transcription	Right Ventricle	heart
39	chr8:19513200-19516200	Enhancers	Placenta	Placenta
40	chr8:19513400-19514400	Enhancers	Primary T cells from cord blood	blood
41	chr8:19513400-19514400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr8:19513600-19518000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:19513800-19514200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:19513800-19514400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:19514000-19514600	Enhancers	Lung	lung
46	chr8:19514200-19515000	Weak transcription	A549	lung
47	chr8:19514200-19518800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:19514400-19514800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:19514400-19518200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:19514400-19519400	Weak transcription	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links