Variant report

Variant	nsv975081
Chromosome Location	chr10:19586227-19600107
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: 604 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549179161	chr10:19586261-19586262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567803851	chr10:19586273-19586274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141756741	chr10:19586275-19586276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182689375	chr10:19586370-19586371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546719056	chr10:19586422-19586423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375834730	chr10:19586436-19586437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150588816	chr10:19586504-19586505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188838043	chr10:19586515-19586516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139623656	chr10:19586551-19586552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534552888	chr10:19586564-19586565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199698107	chr10:19586565-19586566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546467805	chr10:19586584-19586585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538670941	chr10:19586606-19586607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35566237	chr10:19586607-19586608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117291975	chr10:19586630-19586631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568297949	chr10:19586631-19586632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143548514	chr10:19586663-19586664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376320586	chr10:19586681-19586682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554478105	chr10:19586688-19586689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193237679	chr10:19586700-19586701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540052593	chr10:19586701-19586702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553474339	chr10:19586724-19586725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577703001	chr10:19586772-19586773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545032325	chr10:19586784-19586785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563305593	chr10:19586827-19586828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376263243	chr10:19586831-19586832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543256544	chr10:19586874-19586875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561417933	chr10:19586911-19586912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368506009	chr10:19586957-19586958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551476731	chr10:19586961-19586962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112741736	chr10:19586971-19586972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183552752	chr10:19587016-19587017	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571347112	chr10:19587067-19587068	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146308434	chr10:19587069-19587070	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2496053	chr10:19587093-19587094	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs2496052	chr10:19587108-19587109	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1591335	chr10:19587148-19587149	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554895940	chr10:19587151-19587152	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139594905	chr10:19587166-19587167	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144272237	chr10:19587180-19587181	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187503643	chr10:19587189-19587190	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577739106	chr10:19587250-19587251	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545057027	chr10:19587254-19587255	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556935998	chr10:19587275-19587276	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575279312	chr10:19587301-19587302	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542644591	chr10:19587306-19587307	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375290721	chr10:19587345-19587346	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561659465	chr10:19587354-19587355	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557932942	chr10:19587366-19587367	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs33997375	chr10:19587402-19587403	Enhancers Weak transcription Strong 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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19548600-19587000	Weak transcription	Fetal Intestine Large	intestine
2	chr10:19573000-19606000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19580600-19587000	Weak transcription	Fetal Intestine Small	intestine
4	chr10:19587000-19587400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr10:19587000-19587600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:19587000-19587600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:19587000-19587600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:19587000-19587800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:19587000-19587800	Strong transcription	Fetal Intestine Small	intestine
10	chr10:19587000-19589000	Strong transcription	Fetal Intestine Large	intestine
11	chr10:19587200-19587600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:19587200-19587600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:19587200-19587800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
15	chr10:19588800-19590400	Weak transcription	NH-A	brain
16	chr10:19589000-19608400	Weak transcription	Fetal Intestine Large	intestine
17	chr10:19590400-19591600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr10:19590400-19591600	Enhancers	HMEC	breast
19	chr10:19590400-19591600	Enhancers	NHEK	skin
20	chr10:19590400-19591600	Enhancers	Osteobl	bone
21	chr10:19590400-19591800	Enhancers	NH-A	brain
22	chr10:19590800-19591200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:19591000-19591600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:19591800-19593800	Weak transcription	NH-A	brain
25	chr10:19593800-19594600	Enhancers	NH-A	brain
26	chr10:19594600-19598600	Weak transcription	NH-A	brain
27	chr10:19596200-19603600	Weak transcription	HepG2	liver
28	chr10:19598600-19599600	Enhancers	NH-A	brain
29	chr10:19598800-19599800	Enhancers	Osteobl	bone
30	chr10:19599000-19599400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr10:19599200-19599600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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