Variant report

Variant	nsv515091
Chromosome Location	chr8:58367202-58368478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182377438	chr8:58367227-58367228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532575142	chr8:58367231-58367232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2198101	chr8:58367232-58367233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6996399	chr8:58367270-58367271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80202008	chr8:58367303-58367304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34410434	chr8:58367334-58367335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370558786	chr8:58367336-58367337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111330596	chr8:58367341-58367342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548532007	chr8:58367361-58367362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534113998	chr8:58367364-58367365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186821712	chr8:58367395-58367396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139330385	chr8:58367399-58367400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149716287	chr8:58367448-58367449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563387037	chr8:58367541-58367542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375440956	chr8:58367548-58367549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529196038	chr8:58367557-58367558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559018684	chr8:58367570-58367571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189682221	chr8:58367586-58367587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537869064	chr8:58367610-58367611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554507252	chr8:58367620-58367621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145569031	chr8:58367634-58367635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183411206	chr8:58367641-58367642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141387096	chr8:58367669-58367670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375459045	chr8:58367751-58367752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568432490	chr8:58367771-58367772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6471606	chr8:58367822-58367823	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562577175	chr8:58367862-58367863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565847824	chr8:58367909-58367910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531408699	chr8:58367928-58367929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188962028	chr8:58367929-58367930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193043866	chr8:58367949-58367950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527274044	chr8:58367987-58367988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547880801	chr8:58367994-58367995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374193187	chr8:58368005-58368006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539623088	chr8:58368048-58368049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549682087	chr8:58368216-58368217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185345296	chr8:58368244-58368245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569024927	chr8:58368329-58368330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368391690	chr8:58368375-58368376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188214217	chr8:58368387-58368388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191782083	chr8:58368392-58368393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570981839	chr8:58368416-58368417	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539797103	chr8:58368426-58368427	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147651151	chr8:58368450-58368451	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Salivary gland tumor	18059337	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58362200-58368000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:58363200-58370000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:58366800-58370000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:58367800-58370200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:58368000-58368600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:58368000-58368600	Enhancers	HSMM	muscle
7	chr8:58368000-58369000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:58368000-58369200	Enhancers	NHDF-Ad	bronchial
9	chr8:58368000-58369800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:58368000-58370200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:58368200-58370200	Enhancers	Colonic Mucosa	Colon
12	chr8:58368200-58371600	Enhancers	Stomach Mucosa	stomach
13	chr8:58368400-58368600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr8:58368400-58369200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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