Variant report

Variant	esv3421334
Chromosome Location	chr10:19603496-19605494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:19590664..19593584-chr10:19602792..19604860,2	K562	blood:
2	chr10:19598040..19600371-chr10:19601058..19603498,2	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186477011	chr10:19603531-19603532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1591332	chr10:19603542-19603543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1591331	chr10:19603579-19603580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376616241	chr10:19603612-19603613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541675590	chr10:19603670-19603671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190957188	chr10:19603682-19603683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530591371	chr10:19603723-19603724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542655426	chr10:19603751-19603752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560907672	chr10:19603763-19603764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528090783	chr10:19603766-19603767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1591330	chr10:19603771-19603772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139165576	chr10:19603776-19603777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532224586	chr10:19603780-19603781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183123746	chr10:19603781-19603782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569820154	chr10:19603826-19603827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537106242	chr10:19603830-19603831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555429822	chr10:19603843-19603844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4300301	chr10:19603939-19603940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11009416	chr10:19603952-19603953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553424579	chr10:19603970-19603971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75225764	chr10:19603975-19603976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12218988	chr10:19603991-19603992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34922165	chr10:19604014-19604015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545292767	chr10:19604029-19604030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34768199	chr10:19604037-19604038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557541066	chr10:19604050-19604051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188076169	chr10:19604060-19604061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12219639	chr10:19604083-19604084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12219641	chr10:19604090-19604091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12219000	chr10:19604106-19604107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71491159	chr10:19604113-19604114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11009418	chr10:19604122-19604123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28565513	chr10:19604160-19604161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373745870	chr10:19604307-19604308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184505504	chr10:19604339-19604340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188909387	chr10:19604345-19604346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193035270	chr10:19604357-19604358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184792852	chr10:19604360-19604361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111218052	chr10:19604374-19604375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111218051	chr10:19604375-19604376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189700283	chr10:19604381-19604382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180994317	chr10:19604404-19604405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185220417	chr10:19604427-19604428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10827269	chr10:19604445-19604446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10827270	chr10:19604452-19604453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181895861	chr10:19604487-19604488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376507636	chr10:19604598-19604599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111345762	chr10:19604612-19604613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113389313	chr10:19604613-19604614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573590533	chr10:19604617-19604618	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:4 , 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	chr10:19596200-19603600	Weak transcription	HepG2	liver

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