Variant report

Variant	nsv1039265
Chromosome Location	chr10:56948196-56996718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551350788	chr10:56951024-56951025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35296220	chr10:56951058-56951059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565071346	chr10:56951077-56951078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377734179	chr10:56951111-56951112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548784249	chr10:56951131-56951132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530889031	chr10:56951242-56951243	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150042427	chr10:56951298-56951299	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567311356	chr10:56951307-56951308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376912786	chr10:56951322-56951323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546534329	chr10:56951335-56951336	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568673372	chr10:56951339-56951340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186135621	chr10:56951368-56951369	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538679546	chr10:56951380-56951381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190661788	chr10:56951404-56951405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182529831	chr10:56951458-56951459	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537516477	chr10:56951459-56951460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368470274	chr10:56951533-56951534	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145331078	chr10:56951590-56951591	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574111993	chr10:56951592-56951593	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532055315	chr10:56961406-56961407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187320859	chr10:56961415-56961416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562357924	chr10:56961446-56961447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527719287	chr10:56961454-56961455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16907109	chr10:56961460-56961461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2166153	chr10:56961505-56961506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192575654	chr10:56961518-56961519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555184071	chr10:56961557-56961558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141623364	chr10:56961560-56961561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573488069	chr10:56961563-56961564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573479937	chr10:56961565-56961566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372646832	chr10:56961631-56961632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535266241	chr10:56961685-56961686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538031550	chr10:56961691-56961692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146992717	chr10:56961712-56961713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540958678	chr10:56961731-56961732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571994394	chr10:56961742-56961743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184598407	chr10:56961754-56961755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534344572	chr10:56961823-56961824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188171095	chr10:56961838-56961839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577686451	chr10:56961866-56961867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543112726	chr10:56961868-56961869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192174576	chr10:56961890-56961891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576749681	chr10:56961906-56961907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34663271	chr10:56961936-56961937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147612237	chr10:56961963-56961964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142313333	chr10:56961987-56961988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527958974	chr10:56962009-56962010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547785326	chr10:56962012-56962013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539342436	chr10:56962013-56962014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564282061	chr10:56962027-56962028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56951000-56951200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:56951200-56951600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:56961400-56961800	Enhancers	Fetal Stomach	stomach
4	chr10:56961800-56962200	Weak transcription	Fetal Stomach	stomach
5	chr10:56962200-56962400	Enhancers	Fetal Stomach	stomach
6	chr10:56962400-56963400	Weak transcription	Fetal Stomach	stomach
7	chr10:56963600-56963800	Enhancers	Fetal Stomach	stomach
8	chr10:56977800-56978400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:56992200-56993600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:56992400-56992600	Enhancers	GM12878-XiMat	blood
11	chr10:56992400-56992600	Enhancers	Hela-S3	cervix
12	chr10:56992400-56992800	Active TSS	Stomach Smooth Muscle	stomach
13	chr10:56992400-56993400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:56992400-56993400	Active TSS	Duodenum Mucosa	Duodenum
15	chr10:56992600-56993000	Enhancers	Liver	Liver
16	chr10:56992600-56993400	Active TSS	GM12878-XiMat	blood
17	chr10:56992800-56993200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr10:56993000-56993400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr10:56993000-56993600	Active TSS	Liver	Liver

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