Variant report

Variant	nsv8617
Chromosome Location	chr10:37815801-37877331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:37835588..37837794-chr10:37842395..37844055,2	MCF-7	breast:
2	chr10:37842767..37844391-chr8:38728590..38730203,2	MCF-7	breast:
3	chr10:37822760..37823349-chr10:37996545..37997377,2	MCF-7	breast:
4	chr10:37822844..37823593-chr8:38687776..38688471,2	K562	blood:
5	chr10:37835588..37837794-chr10:37842395..37844055,2	MCF-7	breast:

Extended variants
information (count: 548 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578015448	chr10:37823103-37823104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199597451	chr10:37823138-37823139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2505706	chr10:37823147-37823148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554313394	chr10:37823162-37823163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574130175	chr10:37823167-37823168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543346940	chr10:37823207-37823208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575092534	chr10:37823231-37823232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531211302	chr10:37823248-37823249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544565739	chr10:37823264-37823265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564657772	chr10:37823271-37823272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs207470813	chr10:37823313-37823314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539890204	chr10:37823317-37823318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116972967	chr10:37823322-37823323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182163418	chr10:37823338-37823339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567485025	chr10:37823366-37823367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367800710	chr10:37823367-37823368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186697644	chr10:37823384-37823385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11597247	chr10:37823398-37823399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538250796	chr10:37823419-37823420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190119088	chr10:37823444-37823445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571672333	chr10:37823449-37823450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534329537	chr10:37823482-37823483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1830590	chr10:37823526-37823527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181324710	chr10:37823537-37823538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140154110	chr10:37823575-37823576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542768077	chr10:37823594-37823595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185535078	chr10:37823602-37823603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576296507	chr10:37823606-37823607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189852399	chr10:37823615-37823616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564927080	chr10:37823621-37823622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182282320	chr10:37823673-37823674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541158292	chr10:37823702-37823703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552527281	chr10:37823703-37823704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61859569	chr10:37823705-37823706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568981327	chr10:37823716-37823717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112572986	chr10:37823814-37823815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529899972	chr10:37823821-37823822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143173962	chr10:37823937-37823938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372323720	chr10:37823938-37823939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200946239	chr10:37823947-37823948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71297786	chr10:37823960-37823961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531601091	chr10:37824018-37824019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549959514	chr10:37824083-37824084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551398538	chr10:37824087-37824088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117842467	chr10:37824112-37824113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539832412	chr10:37824113-37824114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571648567	chr10:37824130-37824131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533937424	chr10:37824134-37824135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553434617	chr10:37824155-37824156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566946421	chr10:37824163-37824164	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37823000-37825200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr10:37824000-37826200	Enhancers	HSMM	muscle
3	chr10:37824200-37825600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:37824200-37825600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr10:37824400-37825000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr10:37824400-37825000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:37824400-37825200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr10:37824400-37826200	Enhancers	HSMMtube	muscle
9	chr10:37824600-37826000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:37825000-37825200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr10:37825200-37825400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr10:37825200-37825400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr10:37825400-37825600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr10:37825400-37825600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr10:37825600-37826400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr10:37825600-37827000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr10:37826400-37826800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr10:37836800-37837000	Enhancers	Left Ventricle	heart
19	chr10:37836800-37837200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr10:37836800-37837600	Enhancers	Right Atrium	heart
21	chr10:37836800-37838200	Enhancers	Colon Smooth Muscle	Colon
22	chr10:37837000-37837600	Enhancers	Adipose Nuclei	Adipose
23	chr10:37837200-37842000	Weak transcription	Left Ventricle	heart
24	chr10:37837600-37842000	Weak transcription	Right Atrium	heart
25	chr10:37838200-37838800	Enhancers	HSMMtube	muscle
26	chr10:37842000-37842200	Enhancers	Right Atrium	heart
27	chr10:37842000-37842600	Enhancers	Left Ventricle	heart
28	chr10:37842200-37843000	Weak transcription	Right Atrium	heart
29	chr10:37843000-37843200	Enhancers	Right Atrium	heart
30	chr10:37850600-37852600	Enhancers	Stomach Mucosa	stomach
31	chr10:37851800-37853000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr10:37852200-37853400	Enhancers	A549	lung
33	chr10:37861000-37861400	Enhancers	HSMMtube	muscle

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