Variant report

Variant	nsv981948
Chromosome Location	chr8:65675044-65680977
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:65680810..65683502-chr8:65684491..65686356,2	K562	blood:

Extended variants
information (count: 203 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:203 , 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	rs550042458	chr8:65675050-65675051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4737680	chr8:65675055-65675056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551830897	chr8:65675080-65675081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568879537	chr8:65675087-65675088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565178987	chr8:65675096-65675097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558400322	chr8:65675128-65675129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79505450	chr8:65675135-65675136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143789411	chr8:65675136-65675137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572990282	chr8:65675161-65675162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541608128	chr8:65675219-65675220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553556175	chr8:65675239-65675240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151090671	chr8:65675250-65675251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542549398	chr8:65675259-65675260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563531354	chr8:65675360-65675361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140967101	chr8:65675365-65675366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189809616	chr8:65675509-65675510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182418479	chr8:65675512-65675513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200002735	chr8:65675533-65675534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112802846	chr8:65675540-65675541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528586434	chr8:65675595-65675596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571749303	chr8:65675627-65675628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546456828	chr8:65675668-65675669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568281196	chr8:65675685-65675686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529170530	chr8:65675713-65675714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368812123	chr8:65675751-65675752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569182734	chr8:65675764-65675765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577628634	chr8:65675798-65675799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557805961	chr8:65675807-65675808	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs11786234	chr8:65675871-65675872	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566548680	chr8:65675914-65675915	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs114958276	chr8:65675979-65675980	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs73243431	chr8:65675995-65675996	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6472151	chr8:65676050-65676051	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567409747	chr8:65676055-65676056	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542063075	chr8:65676057-65676058	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs7826214	chr8:65676069-65676070	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112332157	chr8:65676074-65676075	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs187273092	chr8:65676129-65676130	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191858260	chr8:65676135-65676136	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528550759	chr8:65676150-65676151	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs6472152	chr8:65676153-65676154	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184104721	chr8:65676161-65676162	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188204692	chr8:65676193-65676194	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs191893935	chr8:65676290-65676291	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7826501	chr8:65676291-65676292	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs56007427	chr8:65676316-65676317	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533291162	chr8:65676319-65676320	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551377746	chr8:65676328-65676329	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182521990	chr8:65676456-65676457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538226360	chr8:65676488-65676489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65666600-65679400	Weak transcription	Pancreas	Pancrea
2	chr8:65671600-65682200	Weak transcription	Esophagus	oesophagus
3	chr8:65672000-65677400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:65674400-65675400	Weak transcription	Fetal Brain Male	brain
5	chr8:65675400-65675800	Enhancers	Fetal Brain Male	brain
6	chr8:65675800-65676400	Active TSS	Hela-S3	cervix
7	chr8:65677400-65678400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:65678000-65678200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr8:65678200-65679200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:65678400-65679400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:65679200-65680000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:65679400-65679600	Enhancers	Pancreas	Pancrea

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