Variant report

Variant	esv20645
Chromosome Location	chr10:28458298-28460090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575889436	chr10:28458324-28458325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545513729	chr10:28458341-28458342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7094670	chr10:28458351-28458352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149358160	chr10:28458352-28458353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113265094	chr10:28458435-28458436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs56852395	chr10:28458447-28458448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577292484	chr10:28458454-28458455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551229175	chr10:28458456-28458457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541533086	chr10:28458469-28458470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559860274	chr10:28458479-28458480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575091192	chr10:28458494-28458495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542403553	chr10:28458562-28458563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74835530	chr10:28458567-28458568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7095067	chr10:28458603-28458604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556246278	chr10:28458638-28458639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574825992	chr10:28458714-28458715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61842998	chr10:28458720-28458721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12414929	chr10:28458763-28458764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12416339	chr10:28458788-28458789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144670599	chr10:28458818-28458819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138589367	chr10:28458878-28458879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2763321	chr10:28458902-28458903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs376418340	chr10:28458908-28458909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185661714	chr10:28458937-28458938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190567577	chr10:28458979-28458980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12412248	chr10:28458998-28458999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs144094486	chr10:28459016-28459017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531301275	chr10:28459036-28459037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369720391	chr10:28459111-28459112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570848791	chr10:28459119-28459120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534667701	chr10:28459140-28459141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75416361	chr10:28459154-28459155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11006907	chr10:28459166-28459167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550754387	chr10:28459240-28459241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369554335	chr10:28459243-28459244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193029700	chr10:28459268-28459269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185363733	chr10:28459271-28459272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2763315	chr10:28459283-28459284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546490139	chr10:28459354-28459355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564594316	chr10:28459447-28459448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532136453	chr10:28459453-28459454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368818325	chr10:28459583-28459584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540583253	chr10:28459594-28459595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs16928572	chr10:28459699-28459700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529733837	chr10:28459714-28459715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567583375	chr10:28459727-28459728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569814682	chr10:28459744-28459745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547970893	chr10:28459777-28459778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189794884	chr10:28459795-28459796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552450684	chr10:28459803-28459804	Weak transcription 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:16 , 50 per page) page: 1

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	chr10:28458000-28458400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:28458000-28458400	Enhancers	Aorta	Aorta
9	chr10:28458400-28458800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr10:28458400-28460400	Weak transcription	Aorta	Aorta
11	chr10:28458600-28459000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr10:28458800-28466400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr10:28459800-28460000	Enhancers	Liver	Liver
14	chr10:28459800-28461400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr10:28460000-28460200	Flanking Active TSS	Liver	Liver
16	chr10:28460000-28461200	Enhancers	Fetal Lung	lung

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