Variant report

Variant	esv3478729
Chromosome Location	chr10:19996186-19998589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12763455	chr10:19996194-19996195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143581003	chr10:19996214-19996215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144087510	chr10:19996227-19996228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561645379	chr10:19996245-19996246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190182606	chr10:19996252-19996253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529019863	chr10:19996265-19996266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541851067	chr10:19996347-19996348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548475663	chr10:19996349-19996350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182775428	chr10:19996350-19996351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148688490	chr10:19996356-19996357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563618483	chr10:19996368-19996369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369706801	chr10:19996393-19996394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570463940	chr10:19996436-19996437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537868659	chr10:19996464-19996465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187415140	chr10:19996548-19996549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568444872	chr10:19996662-19996663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4992464	chr10:19996668-19996669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4992465	chr10:19996670-19996671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7476573	chr10:19996685-19996686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12263226	chr10:19996707-19996708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35967457	chr10:19996716-19996717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397760169	chr10:19996737-19996738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539697435	chr10:19996759-19996760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558106780	chr10:19996789-19996790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112089335	chr10:19996795-19996796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543036894	chr10:19996809-19996810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113275937	chr10:19996821-19996822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573652799	chr10:19996850-19996851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113718591	chr10:19996872-19996873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112186601	chr10:19996896-19996897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541164234	chr10:19996922-19996923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560442454	chr10:19996924-19996925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527880270	chr10:19996934-19996935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12098729	chr10:19996938-19996939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564454045	chr10:19996949-19996950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140100539	chr10:19996962-19996963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55642800	chr10:19997015-19997016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71497287	chr10:19997061-19997062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149821874	chr10:19997132-19997133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145831327	chr10:19997234-19997235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56274249	chr10:19997237-19997238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199893417	chr10:19997249-19997250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201285829	chr10:19997265-19997266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67859474	chr10:19997269-19997270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545136011	chr10:19997270-19997271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188777027	chr10:19997301-19997302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35508391	chr10:19997434-19997435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75948371	chr10:19997452-19997453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113251018	chr10:19997454-19997455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397760227	chr10:19997455-19997456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19986800-20000400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19989200-20000400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19992400-20000600	Weak transcription	Aorta	Aorta
4	chr10:19995200-19996200	Enhancers	Placenta	Placenta
5	chr10:19995200-20000000	Weak transcription	Fetal Intestine Large	intestine
6	chr10:19995600-19996400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:19995800-19996200	Enhancers	HMEC	breast

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