Variant report

Variant	esv3519534
Chromosome Location	chr10:19995446-19999244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28546585	chr10:19995458-19995459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117342738	chr10:19995492-19995493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533948093	chr10:19995494-19995495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142711569	chr10:19995516-19995517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575331411	chr10:19995519-19995520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576907100	chr10:19995541-19995542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544348574	chr10:19995559-19995560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs118085464	chr10:19995560-19995561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563601050	chr10:19995574-19995575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542057997	chr10:19995583-19995584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560208533	chr10:19995606-19995607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28452201	chr10:19995607-19995608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545799362	chr10:19995649-19995650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180872811	chr10:19995681-19995682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146948987	chr10:19995684-19995685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537237932	chr10:19995685-19995686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186273582	chr10:19995721-19995722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556689972	chr10:19995743-19995744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569387635	chr10:19995795-19995796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138025401	chr10:19995872-19995873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548830306	chr10:19995899-19995900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376912635	chr10:19995927-19995928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201129662	chr10:19995938-19995939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141828196	chr10:19995970-19995971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567039426	chr10:19995998-19995999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577369239	chr10:19996002-19996003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138123150	chr10:19996044-19996045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11011187	chr10:19996066-19996067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11011188	chr10:19996068-19996069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374077498	chr10:19996086-19996087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532442805	chr10:19996098-19996099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534250545	chr10:19996099-19996100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558527688	chr10:19996106-19996107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570555281	chr10:19996111-19996112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537905619	chr10:19996118-19996119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556382809	chr10:19996124-19996125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574544917	chr10:19996125-19996126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541671433	chr10:19996127-19996128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75311491	chr10:19996149-19996150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201618365	chr10:19996160-19996161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541287977	chr10:19996166-19996167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12359155	chr10:19996168-19996169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564062014	chr10:19996172-19996173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373899732	chr10:19996174-19996175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12763455	chr10:19996194-19996195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143581003	chr10:19996214-19996215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144087510	chr10:19996227-19996228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561645379	chr10:19996245-19996246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190182606	chr10:19996252-19996253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529019863	chr10:19996265-19996266	Enhancers 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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