Variant report

Variant	esv3401233
Chromosome Location	chr10:19672946-19674294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151032993	chr10:19672947-19672948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185783098	chr10:19672965-19672966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544715363	chr10:19672971-19672972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576557865	chr10:19672987-19672988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11009683	chr10:19673015-19673016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543859230	chr10:19673017-19673018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561898676	chr10:19673021-19673022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529270379	chr10:19673078-19673079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552221615	chr10:19673081-19673082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140959792	chr10:19673199-19673200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533389863	chr10:19673214-19673215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112254384	chr10:19673263-19673264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551518789	chr10:19673284-19673285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113018816	chr10:19673345-19673346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569418097	chr10:19673383-19673384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12414116	chr10:19673413-19673414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12414117	chr10:19673417-19673418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12413198	chr10:19673429-19673430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185136446	chr10:19673455-19673456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548586157	chr10:19673458-19673459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188733083	chr10:19673472-19673473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181209127	chr10:19673494-19673495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185300660	chr10:19673510-19673511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567176792	chr10:19673524-19673525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12412907	chr10:19673527-19673528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12412908	chr10:19673536-19673537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539911822	chr10:19673562-19673563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188215715	chr10:19673676-19673677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4556435	chr10:19673697-19673698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538839641	chr10:19673771-19673772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180761237	chr10:19673807-19673808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547999770	chr10:19673883-19673884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187577489	chr10:19673936-19673937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191904771	chr10:19673981-19673982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561760919	chr10:19673986-19673987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555810529	chr10:19674051-19674052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146551757	chr10:19674107-19674108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35701881	chr10:19674119-19674120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183816528	chr10:19674129-19674130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139145911	chr10:19674133-19674134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533402764	chr10:19674140-19674141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545221948	chr10:19674142-19674143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144976027	chr10:19674145-19674146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563508537	chr10:19674199-19674200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530994521	chr10:19674233-19674234	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566981839	chr10:19674237-19674238	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567344190	chr10:19674241-19674242	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35678116	chr10:19674271-19674272	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114473254	chr10:19674272-19674273	Flanking Active TSS Enhancers 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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19658000-19674000	Weak transcription	Fetal Intestine Large	intestine
2	chr10:19662600-19678400	Weak transcription	Fetal Intestine Small	intestine
3	chr10:19674000-19674200	Enhancers	Liver	Liver
4	chr10:19674000-19675800	Enhancers	Fetal Intestine Large	intestine
5	chr10:19674000-19675800	Enhancers	HepG2	liver
6	chr10:19674200-19674400	Flanking Active TSS	Liver	Liver

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