Variant report

Variant	nsv824562
Chromosome Location	chr8:19887669-19892851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575789425	chr8:19890605-19890606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10103634	chr8:19890612-19890613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs187544997	chr8:19890641-19890642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573652317	chr8:19890644-19890645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4557718	chr8:19890654-19890655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138517454	chr8:19890716-19890717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192795069	chr8:19890728-19890729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115907784	chr8:19890741-19890742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116048227	chr8:19890745-19890746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530620713	chr8:19890748-19890749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539438988	chr8:19890760-19890761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184748159	chr8:19890770-19890771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10090948	chr8:19890776-19890777	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528404042	chr8:19890786-19890787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371114322	chr8:19890845-19890846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569253801	chr8:19890847-19890848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557394307	chr8:19890861-19890862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546567883	chr8:19890998-19890999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187028588	chr8:19891103-19891104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539114089	chr8:19891112-19891113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577648877	chr8:19891132-19891133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557186007	chr8:19891136-19891137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374392147	chr8:19891153-19891154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191920181	chr8:19891154-19891155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13267885	chr8:19891219-19891220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28526159	chr8:19891227-19891228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143872181	chr8:19891231-19891232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184393681	chr8:19891242-19891243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146328312	chr8:19891243-19891244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561445436	chr8:19891258-19891259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13269007	chr8:19891271-19891272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13265979	chr8:19891279-19891280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13265984	chr8:19891284-19891285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116092177	chr8:19891301-19891302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545040164	chr8:19891307-19891308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563260245	chr8:19891354-19891355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530582728	chr8:19891362-19891363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542397603	chr8:19891405-19891406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560776782	chr8:19891432-19891433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528367150	chr8:19891437-19891438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35234854	chr8:19891448-19891449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571577761	chr8:19891453-19891454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532406569	chr8:19891469-19891470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557927009	chr8:19891479-19891480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113277128	chr8:19891488-19891489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182016332	chr8:19891504-19891505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569391482	chr8:19891510-19891511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34214665	chr8:19891519-19891520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555181779	chr8:19891520-19891521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141464813	chr8:19891529-19891530	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	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
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19890600-19892800	Enhancers	Fetal Lung	lung
2	chr8:19890800-19891400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:19891000-19891400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:19891600-19892800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:19891600-19892800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:19892000-19892600	Enhancers	Primary monocytes fromperipheralblood	blood

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