Variant report

Variant	esv3323027
Chromosome Location	chr10:19594396-19596094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144237261	chr10:19594443-19594444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376432443	chr10:19594455-19594456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531524957	chr10:19594460-19594461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56037800	chr10:19594544-19594545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561828574	chr10:19594600-19594601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191107851	chr10:19594611-19594612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536284431	chr10:19594618-19594619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201069367	chr10:19594735-19594736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34036364	chr10:19594791-19594792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575677574	chr10:19594806-19594807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546556325	chr10:19594822-19594823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554915269	chr10:19594823-19594824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567193925	chr10:19594830-19594831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534447562	chr10:19594831-19594832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11009379	chr10:19594866-19594867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11009380	chr10:19594872-19594873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201748253	chr10:19594962-19594963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200520713	chr10:19594964-19594965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559204470	chr10:19595001-19595002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182289392	chr10:19595022-19595023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2484095	chr10:19595024-19595025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112056244	chr10:19595030-19595031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556011011	chr10:19595045-19595046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10827261	chr10:19595049-19595050	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs80166575	chr10:19595053-19595054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541473127	chr10:19595055-19595056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559674826	chr10:19595065-19595066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373612985	chr10:19595096-19595097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540808835	chr10:19595132-19595133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199787873	chr10:19595141-19595142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562098082	chr10:19595147-19595148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201000130	chr10:19595149-19595150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370290822	chr10:19595170-19595171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376800728	chr10:19595175-19595176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527592577	chr10:19595209-19595210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545733826	chr10:19595212-19595213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564037260	chr10:19595231-19595232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531435624	chr10:19595235-19595236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2496091	chr10:19595244-19595245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186641226	chr10:19595262-19595263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569267493	chr10:19595263-19595264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2496092	chr10:19595269-19595270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2991933	chr10:19595274-19595275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2496093	chr10:19595276-19595277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150858439	chr10:19595295-19595296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2496094	chr10:19595301-19595302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534174332	chr10:19595303-19595304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552948683	chr10:19595306-19595307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7476112	chr10:19595308-19595309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188593985	chr10:19595327-19595328	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:5 , 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

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