Variant report

Variant	nsv519294
Chromosome Location	chr8:89938225-89941214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1548120	chr8:89938225-89938226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539911148	chr8:89938289-89938290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558798632	chr8:89938331-89938332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77927578	chr8:89938392-89938393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184509417	chr8:89938435-89938436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113450499	chr8:89938448-89938449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112271178	chr8:89938452-89938453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555871825	chr8:89938469-89938470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112941292	chr8:89938470-89938471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575017696	chr8:89938475-89938476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77712067	chr8:89938502-89938503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528642666	chr8:89938505-89938506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367592060	chr8:89938512-89938513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547318864	chr8:89938521-89938522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114187432	chr8:89938522-89938523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529540724	chr8:89938561-89938562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376465059	chr8:89938567-89938568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550717977	chr8:89938581-89938582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569238310	chr8:89938592-89938593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77660587	chr8:89938612-89938613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77786160	chr8:89938639-89938640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138116493	chr8:89938652-89938653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112327603	chr8:89938677-89938678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116407213	chr8:89938686-89938687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370336406	chr8:89938690-89938691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553091971	chr8:89938703-89938704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76383106	chr8:89938704-89938705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74584453	chr8:89938707-89938708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556556389	chr8:89938730-89938731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574880335	chr8:89938738-89938739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372407487	chr8:89938742-89938743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78469432	chr8:89938749-89938750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76475557	chr8:89938805-89938806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562564222	chr8:89938866-89938867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557794089	chr8:89938924-89938925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80254917	chr8:89938931-89938932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189248839	chr8:89938959-89938960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13253448	chr8:89938969-89938970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76345976	chr8:89938979-89938980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551237809	chr8:89938994-89938995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181996484	chr8:89939036-89939037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34297981	chr8:89939086-89939087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534041285	chr8:89939112-89939113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566325169	chr8:89939134-89939135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1872893	chr8:89939179-89939180	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113905004	chr8:89939190-89939191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78954096	chr8:89939226-89939227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534258961	chr8:89939240-89939241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546493424	chr8:89939255-89939256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556471263	chr8:89939338-89939339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89938000-89939200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:89938400-89938800	Enhancers	HMEC	breast
3	chr8:89938400-89939000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:89938400-89939000	Enhancers	NHDF-Ad	bronchial
5	chr8:89938600-89939000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:89939000-89953800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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