Variant report

Variant	nsv516030
Chromosome Location	chr8:65250883-65256119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs10104164	chr8:65250883-65250884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573611553	chr8:65250949-65250950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543762978	chr8:65250961-65250962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537291900	chr8:65250990-65250991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562344937	chr8:65250993-65250994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544194262	chr8:65250994-65250995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187700003	chr8:65251059-65251060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190828401	chr8:65251113-65251114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560226801	chr8:65251118-65251119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183907497	chr8:65251120-65251121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547232177	chr8:65251149-65251150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146683315	chr8:65251154-65251155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1866278	chr8:65251178-65251179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74344177	chr8:65251215-65251216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13439695	chr8:65251218-65251219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576147648	chr8:65251251-65251252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542050165	chr8:65251259-65251260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140217938	chr8:65251310-65251311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187968581	chr8:65251317-65251318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35117068	chr8:65251371-65251372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35178727	chr8:65251407-65251408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566648494	chr8:65251456-65251457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533701732	chr8:65251504-65251505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75804187	chr8:65251508-65251509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150287776	chr8:65251523-65251524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1898624	chr8:65251562-65251563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10957310	chr8:65251572-65251573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556460231	chr8:65251624-65251625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577549903	chr8:65251635-65251636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137942224	chr8:65251658-65251659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553557710	chr8:65251664-65251665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16931083	chr8:65251708-65251709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs149212440	chr8:65251718-65251719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146916395	chr8:65251724-65251725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139230526	chr8:65251743-65251744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192600003	chr8:65251745-65251746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36056461	chr8:65251751-65251752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563226768	chr8:65251780-65251781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34492521	chr8:65251788-65251789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184462995	chr8:65251813-65251814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs298188	chr8:65251877-65251878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533148651	chr8:65251899-65251900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143168343	chr8:65251913-65251914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566583347	chr8:65251939-65251940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187652701	chr8:65252000-65252001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112837843	chr8:65252055-65252056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549110067	chr8:65252107-65252108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567112476	chr8:65252114-65252115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34117765	chr8:65252124-65252125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191766775	chr8:65252129-65252130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65249600-65260000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65251400-65253800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:65253800-65254600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:65254200-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:65254400-65255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:65254600-65255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:65254600-65257200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:65255200-65255400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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