Variant report

Variant	esv3415804
Chromosome Location	chr10:19448146-19451194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186424244	chr10:19448176-19448177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376409128	chr10:19448196-19448197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577982282	chr10:19448246-19448247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139285148	chr10:19448287-19448288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563937659	chr10:19448295-19448296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531253938	chr10:19448306-19448307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189349530	chr10:19448321-19448322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180846220	chr10:19448354-19448355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74118807	chr10:19448437-19448438	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs61851297	chr10:19448463-19448464	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571205368	chr10:19448492-19448493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2358341	chr10:19448493-19448494	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550180453	chr10:19448498-19448499	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568761883	chr10:19448509-19448510	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111379095	chr10:19448561-19448562	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559101888	chr10:19448566-19448567	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4320861	chr10:19448584-19448585	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573002345	chr10:19448620-19448621	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531779168	chr10:19448650-19448651	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534787503	chr10:19448670-19448671	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150010604	chr10:19448681-19448682	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549972434	chr10:19448692-19448693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553404741	chr10:19448700-19448701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185785330	chr10:19448715-19448716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374225864	chr10:19448725-19448726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578061122	chr10:19448748-19448749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142555818	chr10:19448755-19448756	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60003350	chr10:19448795-19448796	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs72790781	chr10:19448806-19448807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192392317	chr10:19448807-19448808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183128408	chr10:19448887-19448888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528710926	chr10:19448963-19448964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547186686	chr10:19448970-19448971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12258114	chr10:19448977-19448978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532716549	chr10:19449005-19449006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550123097	chr10:19449069-19449070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547380949	chr10:19449085-19449086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113946724	chr10:19449086-19449087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146846860	chr10:19449089-19449090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115701742	chr10:19449091-19449092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533715078	chr10:19449205-19449206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558739099	chr10:19449220-19449221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571723383	chr10:19449242-19449243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539176319	chr10:19449244-19449245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536729535	chr10:19449252-19449253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34358819	chr10:19449297-19449298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543289496	chr10:19449345-19449346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554927304	chr10:19449375-19449376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573501337	chr10:19449389-19449390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570148149	chr10:19449391-19449392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19438400-19489000	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19446000-19450600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19447400-19448800	Strong transcription	Fetal Intestine Large	intestine
4	chr10:19448400-19448800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:19448800-19454600	Weak transcription	Fetal Intestine Large	intestine
6	chr10:19450600-19451000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr10:19451000-19454600	Weak transcription	Duodenum Mucosa	Duodenum

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