Variant report

Variant	nsv521787
Chromosome Location	chr10:28458902-28464753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 225 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:225 , 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	rs2763321	chr10:28458902-28458903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376418340	chr10:28458908-28458909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185661714	chr10:28458937-28458938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190567577	chr10:28458979-28458980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12412248	chr10:28458998-28458999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144094486	chr10:28459016-28459017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531301275	chr10:28459036-28459037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369720391	chr10:28459111-28459112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570848791	chr10:28459119-28459120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534667701	chr10:28459140-28459141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75416361	chr10:28459154-28459155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11006907	chr10:28459166-28459167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550754387	chr10:28459240-28459241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369554335	chr10:28459243-28459244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193029700	chr10:28459268-28459269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185363733	chr10:28459271-28459272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2763315	chr10:28459283-28459284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546490139	chr10:28459354-28459355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564594316	chr10:28459447-28459448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532136453	chr10:28459453-28459454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368818325	chr10:28459583-28459584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540583253	chr10:28459594-28459595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16928572	chr10:28459699-28459700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529733837	chr10:28459714-28459715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567583375	chr10:28459727-28459728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569814682	chr10:28459744-28459745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547970893	chr10:28459777-28459778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189794884	chr10:28459795-28459796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552450684	chr10:28459803-28459804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11006908	chr10:28459853-28459854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs181298429	chr10:28459860-28459861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185702414	chr10:28459864-28459865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568596474	chr10:28459872-28459873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535939113	chr10:28459915-28459916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557457170	chr10:28459949-28459950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374879466	chr10:28459951-28459952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16928573	chr10:28460000-28460001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7087930	chr10:28460048-28460049	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558436233	chr10:28460087-28460088	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7911950	chr10:28460091-28460092	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540670001	chr10:28460093-28460094	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558899623	chr10:28460097-28460098	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529771501	chr10:28460100-28460101	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114758034	chr10:28460136-28460137	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147313762	chr10:28460178-28460179	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188403480	chr10:28460212-28460213	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180818973	chr10:28460231-28460232	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7912085	chr10:28460237-28460238	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7912086	chr10:28460240-28460241	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs571317102	chr10:28460256-28460257	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28439000-28466600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr10:28439000-28467000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr10:28439200-28466600	Weak transcription	Primary T cells from cord blood	blood
4	chr10:28443800-28460200	Weak transcription	Colon Smooth Muscle	Colon
5	chr10:28449800-28497000	Weak transcription	Fetal Intestine Small	intestine
6	chr10:28452200-28467000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr10:28458400-28460400	Weak transcription	Aorta	Aorta
8	chr10:28458600-28459000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr10:28458800-28466400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:28459800-28460000	Enhancers	Liver	Liver
11	chr10:28459800-28461400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr10:28460000-28460200	Flanking Active TSS	Liver	Liver
13	chr10:28460000-28461200	Enhancers	Fetal Lung	lung
14	chr10:28460200-28460600	Active TSS	Liver	Liver
15	chr10:28460200-28460600	Active TSS	Osteobl	bone
16	chr10:28460200-28460800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:28460200-28460800	Enhancers	Colon Smooth Muscle	Colon
18	chr10:28460200-28460800	Active TSS	Stomach Smooth Muscle	stomach
19	chr10:28460200-28461400	Enhancers	Fetal Heart	heart
20	chr10:28460400-28460600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:28460400-28460600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr10:28460400-28460800	Active TSS	Ovary	ovary
23	chr10:28460400-28461000	Active TSS	Aorta	Aorta
24	chr10:28460600-28460800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:28460600-28460800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr10:28460600-28461000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:28460600-28461000	Flanking Active TSS	Liver	Liver
28	chr10:28460600-28461200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr10:28460600-28461200	Enhancers	Rectal Smooth Muscle	rectum
30	chr10:28460600-28461600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:28460600-28462000	Enhancers	Brain Germinal Matrix	brain
32	chr10:28460800-28461000	Enhancers	Esophagus	oesophagus
33	chr10:28460800-28461000	Enhancers	Right Atrium	heart
34	chr10:28460800-28461200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr10:28460800-28461200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr10:28460800-28461200	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr10:28460800-28461400	Enhancers	Psoas Muscle	Psoas
38	chr10:28460800-28463400	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:28460800-28467200	Weak transcription	Ovary	ovary
40	chr10:28461000-28461600	Enhancers	Liver	Liver
41	chr10:28461000-28463000	Weak transcription	Esophagus	oesophagus
42	chr10:28461000-28467000	Weak transcription	Aorta	Aorta
43	chr10:28461200-28461400	Enhancers	Stomach Smooth Muscle	stomach
44	chr10:28461200-28466800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr10:28461200-28467000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr10:28461200-28467200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr10:28461200-28467200	Weak transcription	Fetal Lung	lung
48	chr10:28461400-28461800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:28461400-28466800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr10:28461400-28467000	Weak transcription	Psoas Muscle	Psoas

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