Variant report

Variant	nsv1054192
Chromosome Location	chr10:37298828-37396508
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	chr1:235989326..235989978-chr10:37309298..37310202,2	MCF-7	breast:

Extended variants
information (count: 1007 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7902326	chr10:37298828-37298829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555015018	chr10:37298834-37298835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568473475	chr10:37298865-37298866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145338916	chr10:37298872-37298873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183152000	chr10:37298919-37298920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187437103	chr10:37298931-37298932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192247773	chr10:37298972-37298973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563877464	chr10:37299012-37299013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546495117	chr10:37299033-37299034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553723740	chr10:37299050-37299051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546156760	chr10:37299054-37299055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185095344	chr10:37299124-37299125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35426165	chr10:37299202-37299203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76811826	chr10:37299208-37299209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188415225	chr10:37299220-37299221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60171145	chr10:37299235-37299236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560765457	chr10:37299249-37299250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552674296	chr10:37299331-37299332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560035758	chr10:37299399-37299400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563924091	chr10:37299455-37299456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192548544	chr10:37299496-37299497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546463915	chr10:37299596-37299597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566447474	chr10:37299605-37299606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3040046	chr10:37299611-37299612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184482384	chr10:37299617-37299618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397836127	chr10:37299620-37299621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375009777	chr10:37299622-37299623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528792486	chr10:37299632-37299633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568480924	chr10:37299697-37299698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs953061	chr10:37299699-37299700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368944657	chr10:37299739-37299740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559685848	chr10:37299754-37299755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553982530	chr10:37299755-37299756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57009920	chr10:37299757-37299758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549109749	chr10:37299793-37299794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557454410	chr10:37299795-37299796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571028733	chr10:37299830-37299831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368264610	chr10:37299836-37299837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372388078	chr10:37299840-37299841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76480480	chr10:37299852-37299853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538951855	chr10:37299864-37299865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs953060	chr10:37299866-37299867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555060007	chr10:37299873-37299874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575230515	chr10:37299888-37299889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377097569	chr10:37299938-37299939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531649143	chr10:37299956-37299957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2459418	chr10:37300026-37300027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563862627	chr10:37300075-37300076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577385553	chr10:37300079-37300080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540049250	chr10:37300092-37300093	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37296800-37300800	Enhancers	Placenta	Placenta
2	chr10:37300800-37301200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr10:37302000-37302800	Enhancers	Rectal Smooth Muscle	rectum
4	chr10:37302000-37306000	Enhancers	Colon Smooth Muscle	Colon
5	chr10:37302800-37303200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:37303200-37305800	Enhancers	Rectal Smooth Muscle	rectum
7	chr10:37303600-37305200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:37305800-37306400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:37306000-37306400	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:37306400-37307200	Enhancers	Rectal Smooth Muscle	rectum
11	chr10:37306400-37307400	Enhancers	Colon Smooth Muscle	Colon
12	chr10:37307400-37307800	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:37307800-37308400	Enhancers	Colon Smooth Muscle	Colon
14	chr10:37313800-37314200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr10:37315600-37316800	Enhancers	Colon Smooth Muscle	Colon
16	chr10:37316200-37316800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:37342000-37343200	Enhancers	A549	lung
18	chr10:37343000-37343600	Enhancers	Adipose Nuclei	Adipose
19	chr10:37363600-37364000	Enhancers	Colon Smooth Muscle	Colon
20	chr10:37382400-37384200	Weak transcription	A549	lung
21	chr10:37384200-37385200	Enhancers	A549	lung
22	chr10:37385200-37385600	Flanking Active TSS	A549	lung
23	chr10:37385600-37387000	Weak transcription	A549	lung
24	chr10:37387000-37387400	ZNF genes & repeats	A549	lung
25	chr10:37387400-37390000	Weak transcription	A549	lung
26	chr10:37390000-37391400	Enhancers	A549	lung
27	chr10:37390400-37391000	Enhancers	Adipose Nuclei	Adipose
28	chr10:37390600-37391000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:37391400-37396400	Weak transcription	A549	lung
30	chr10:37393400-37393600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:37393400-37393600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:37393400-37393600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr10:37393400-37393600	Enhancers	Esophagus	oesophagus
34	chr10:37393400-37393600	ZNF genes & repeats	Gastric	stomach
35	chr10:37393400-37393600	Bivalent Enhancer	Spleen	Spleen
36	chr10:37396400-37398200	Enhancers	A549	lung

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