Variant report

Variant	esv1817997
Chromosome Location	chr10:19991595-19998016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 279 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12263911	chr10:19991595-19991596	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188545010	chr10:19991634-19991635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147399658	chr10:19991653-19991654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534311051	chr10:19991682-19991683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34480244	chr10:19991714-19991715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139637429	chr10:19991722-19991723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192215897	chr10:19991723-19991724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573555553	chr10:19991756-19991757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574485140	chr10:19991811-19991812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559333324	chr10:19991812-19991813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577640424	chr10:19991826-19991827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12256382	chr10:19991841-19991842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564330023	chr10:19991849-19991850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531797998	chr10:19991983-19991984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73595900	chr10:19991996-19991997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562066099	chr10:19992002-19992003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529626671	chr10:19992008-19992009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557989495	chr10:19992027-19992028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368778820	chr10:19992046-19992047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572890416	chr10:19992103-19992104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547455055	chr10:19992111-19992112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150578922	chr10:19992158-19992159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116302397	chr10:19992188-19992189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11595918	chr10:19992224-19992225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34487985	chr10:19992237-19992238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78503953	chr10:19992247-19992248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139623770	chr10:19992272-19992273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537266916	chr10:19992279-19992280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184752903	chr10:19992280-19992281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573836111	chr10:19992281-19992282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189478570	chr10:19992293-19992294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534944002	chr10:19992299-19992300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552688280	chr10:19992329-19992330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577604793	chr10:19992360-19992361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544663536	chr10:19992372-19992373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192661386	chr10:19992399-19992400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576201312	chr10:19992461-19992462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543623624	chr10:19992473-19992474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562336057	chr10:19992474-19992475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116871949	chr10:19992508-19992509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34665004	chr10:19992544-19992545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548109375	chr10:19992556-19992557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559447921	chr10:19992559-19992560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533370962	chr10:19992561-19992562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184413691	chr10:19992571-19992572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189288523	chr10:19992592-19992593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181183283	chr10:19992594-19992595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576531656	chr10:19992668-19992669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186435735	chr10:19992784-19992785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544021711	chr10:19992833-19992834	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19986800-20000400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19988400-19993200	Weak transcription	Fetal Intestine Large	intestine
3	chr10:19989200-20000400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:19990400-19991800	Enhancers	HSMMtube	muscle
5	chr10:19990800-19991800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:19990800-19991800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr10:19990800-19991800	Enhancers	NHEK	skin
8	chr10:19990800-19991800	Enhancers	Osteobl	bone
9	chr10:19990800-19992000	Enhancers	HSMM	muscle
10	chr10:19991400-19991800	Weak transcription	NH-A	brain
11	chr10:19991400-19992200	Weak transcription	Aorta	Aorta
12	chr10:19991800-19992000	Enhancers	NH-A	brain
13	chr10:19991800-19993200	Weak transcription	Osteobl	bone
14	chr10:19992000-19992600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:19992000-19993200	Weak transcription	NH-A	brain
16	chr10:19992000-19994200	Weak transcription	HSMM	muscle
17	chr10:19992200-19992400	Enhancers	Aorta	Aorta
18	chr10:19992400-20000600	Weak transcription	Aorta	Aorta
19	chr10:19992600-19993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:19993000-19994600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:19993200-19993400	Enhancers	Osteobl	bone
22	chr10:19993200-19993800	Enhancers	NH-A	brain
23	chr10:19993200-19994400	Strong transcription	Fetal Intestine Large	intestine
24	chr10:19993400-19993800	Weak transcription	Osteobl	bone
25	chr10:19993800-19994200	Weak transcription	NH-A	brain
26	chr10:19993800-19994600	Enhancers	Osteobl	bone
27	chr10:19994200-19994400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr10:19994200-19994600	Enhancers	HSMM	muscle
29	chr10:19994200-19995000	Enhancers	NH-A	brain
30	chr10:19994400-19995000	Weak transcription	Fetal Intestine Large	intestine
31	chr10:19995000-19995200	Strong transcription	Fetal Intestine Large	intestine
32	chr10:19995200-19996200	Enhancers	Placenta	Placenta
33	chr10:19995200-20000000	Weak transcription	Fetal Intestine Large	intestine
34	chr10:19995600-19996400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:19995800-19996200	Enhancers	HMEC	breast

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