Variant report

Variant	nsv515823
Chromosome Location	chr10:6596242-6597077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6602820	chr10:6596242-6596243	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369575626	chr10:6596252-6596253	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77305237	chr10:6596274-6596275	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78942202	chr10:6596287-6596288	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17137922	chr10:6596307-6596308	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555650189	chr10:6596312-6596313	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56810982	chr10:6596332-6596333	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs57139666	chr10:6596354-6596355	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398114026	chr10:6596355-6596356	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544537518	chr10:6596408-6596409	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556429028	chr10:6596493-6596494	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs943446	chr10:6596538-6596539	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112679070	chr10:6596596-6596597	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184926758	chr10:6596606-6596607	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188146870	chr10:6596643-6596644	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542729867	chr10:6596677-6596678	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541633032	chr10:6596745-6596746	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148358357	chr10:6596775-6596776	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531543895	chr10:6596800-6596801	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75349977	chr10:6596801-6596802	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77519638	chr10:6596814-6596815	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61841308	chr10:6596966-6596967	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75852596	chr10:6596997-6596998	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575612639	chr10:6597015-6597016	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546184036	chr10:6597027-6597028	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141202409	chr10:6597068-6597069	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs943447	chr10:6597077-6597078	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6587800-6603600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:6587800-6604200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:6588400-6596400	Weak transcription	Fetal Thymus	thymus
4	chr10:6588400-6597800	Weak transcription	Thymus	Thymus
5	chr10:6588600-6599000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:6588600-6599200	Weak transcription	Primary T cells from cord blood	blood
7	chr10:6591200-6597800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:6591400-6597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:6591400-6599600	Weak transcription	Dnd41	blood
10	chr10:6593600-6599400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:6593800-6597800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr10:6593800-6597800	Weak transcription	Pancreas	Pancrea
13	chr10:6593800-6599600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:6594400-6598000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr10:6595000-6602400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr10:6595200-6596400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:6595400-6605000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr10:6596000-6596400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:6596000-6596600	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr10:6596000-6596800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr10:6596000-6597000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:6596000-6597000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr10:6596000-6597600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr10:6596000-6600400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:6596200-6596600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:6596200-6600000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr10:6596400-6596600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:6596400-6596600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:6596400-6596600	Enhancers	Fetal Thymus	thymus
30	chr10:6596600-6597600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr10:6596600-6597600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:6596600-6597600	Weak transcription	Fetal Thymus	thymus
33	chr10:6596600-6597800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr10:6596800-6597800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr10:6597000-6597200	Enhancers	Duodenum Mucosa	Duodenum
36	chr10:6597000-6599000	Weak transcription	Monocytes-CD14+_RO01746	blood

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