Variant report

Variant	nsv982847
Chromosome Location	chr10:37549675-37560381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:37188427..37189360-chr10:37552086..37552688,3	MCF-7	breast:
2	chr10:37188300..37189549-chr10:37551973..37553021,9	MCF-7	breast:
3	chr10:37177695..37178496-chr10:37551972..37552564,2	MCF-7	breast:

Extended variants
information (count: 318 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572526830	chr10:37550247-37550248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541549113	chr10:37550258-37550259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181194785	chr10:37550363-37550364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35329195	chr10:37550376-37550377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140061444	chr10:37550393-37550394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183928289	chr10:37550415-37550416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563792341	chr10:37550428-37550429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540644972	chr10:37550432-37550433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74486817	chr10:37550440-37550441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368679419	chr10:37550474-37550475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149597946	chr10:37550488-37550489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550810768	chr10:37550507-37550508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545428628	chr10:37550544-37550545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188264822	chr10:37550580-37550581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532941020	chr10:37550581-37550582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528163744	chr10:37550682-37550683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546324822	chr10:37550784-37550785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558949901	chr10:37550797-37550798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11011080	chr10:37550853-37550854	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557270621	chr10:37550889-37550890	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs377442710	chr10:37550938-37550939	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570627049	chr10:37550967-37550968	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs539724756	chr10:37550983-37550984	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535482451	chr10:37550998-37550999	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558952306	chr10:37551097-37551098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566122034	chr10:37551109-37551110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535120811	chr10:37551280-37551281	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555132322	chr10:37551358-37551359	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576956063	chr10:37551366-37551367	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575072903	chr10:37551387-37551388	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs543622383	chr10:37551394-37551395	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs557531983	chr10:37551458-37551459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577424234	chr10:37551490-37551491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144282010	chr10:37551507-37551508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558919898	chr10:37551592-37551593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201189167	chr10:37551599-37551600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374096469	chr10:37551625-37551626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548706756	chr10:37551764-37551765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148730238	chr10:37551793-37551794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374017547	chr10:37551852-37551853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142249214	chr10:37551875-37551876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146520623	chr10:37551886-37551887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139955326	chr10:37551887-37551888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181923040	chr10:37551902-37551903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568797653	chr10:37551951-37551952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533070332	chr10:37551957-37551958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546964613	chr10:37552001-37552002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566060676	chr10:37552005-37552006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538174934	chr10:37552016-37552017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535055734	chr10:37552020-37552021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37550200-37550800	Enhancers	A549	lung
2	chr10:37550800-37551000	Flanking Active TSS	A549	lung
3	chr10:37550800-37551400	Enhancers	Rectal Smooth Muscle	rectum
4	chr10:37551000-37551200	Enhancers	A549	lung
5	chr10:37551200-37551400	Flanking Active TSS	A549	lung
6	chr10:37551400-37552600	Weak transcription	A549	lung
7	chr10:37552600-37553800	Enhancers	A549	lung
8	chr10:37553200-37553600	Active TSS	Fetal Heart	heart
9	chr10:37553600-37558200	Weak transcription	Fetal Heart	heart
10	chr10:37553800-37558000	Weak transcription	A549	lung
11	chr10:37554400-37554800	Enhancers	Adipose Nuclei	Adipose
12	chr10:37556800-37557000	Enhancers	Adipose Nuclei	Adipose
13	chr10:37558000-37559400	Enhancers	Colon Smooth Muscle	Colon
14	chr10:37558000-37559400	Enhancers	A549	lung

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