Variant report

Variant	esv3324506
Chromosome Location	chr10:19593971-19596519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555494632	chr10:19594037-19594038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111944050	chr10:19594063-19594064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183314584	chr10:19594071-19594072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536648532	chr10:19594072-19594073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11009377	chr10:19594078-19594079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574887014	chr10:19594101-19594102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573562597	chr10:19594109-19594110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540844915	chr10:19594116-19594117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368405620	chr10:19594187-19594188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138166174	chr10:19594190-19594191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562634699	chr10:19594209-19594210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562592600	chr10:19594246-19594247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142713425	chr10:19594249-19594250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528080625	chr10:19594277-19594278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186609332	chr10:19594291-19594292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144964282	chr10:19594322-19594323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2484096	chr10:19594381-19594382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541796999	chr10:19594389-19594390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144237261	chr10:19594443-19594444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376432443	chr10:19594455-19594456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531524957	chr10:19594460-19594461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56037800	chr10:19594544-19594545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561828574	chr10:19594600-19594601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191107851	chr10:19594611-19594612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536284431	chr10:19594618-19594619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201069367	chr10:19594735-19594736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34036364	chr10:19594791-19594792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575677574	chr10:19594806-19594807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546556325	chr10:19594822-19594823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554915269	chr10:19594823-19594824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567193925	chr10:19594830-19594831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534447562	chr10:19594831-19594832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11009379	chr10:19594866-19594867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11009380	chr10:19594872-19594873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201748253	chr10:19594962-19594963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200520713	chr10:19594964-19594965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559204470	chr10:19595001-19595002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182289392	chr10:19595022-19595023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2484095	chr10:19595024-19595025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112056244	chr10:19595030-19595031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556011011	chr10:19595045-19595046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10827261	chr10:19595049-19595050	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs80166575	chr10:19595053-19595054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541473127	chr10:19595055-19595056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559674826	chr10:19595065-19595066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373612985	chr10:19595096-19595097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540808835	chr10:19595132-19595133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199787873	chr10:19595141-19595142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562098082	chr10:19595147-19595148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201000130	chr10:19595149-19595150	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	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
3	chr10:19589000-19608400	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19593800-19594600	Enhancers	NH-A	brain
5	chr10:19594600-19598600	Weak transcription	NH-A	brain
6	chr10:19596200-19603600	Weak transcription	HepG2	liver

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