Variant report

Variant	nsv524196
Chromosome Location	chr8:4233891-4240580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 378 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550495764	chr8:4235810-4235811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546666280	chr8:4235811-4235812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79229105	chr8:4235816-4235817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532502146	chr8:4235819-4235820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551396696	chr8:4235825-4235826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188751684	chr8:4235867-4235868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536943578	chr8:4235896-4235897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17414118	chr8:4235897-4235898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181127764	chr8:4235900-4235901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562404008	chr8:4235902-4235903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140688775	chr8:4235906-4235907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185640465	chr8:4235913-4235914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145878169	chr8:4235914-4235915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544940555	chr8:4235928-4235929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552306032	chr8:4235958-4235959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138345184	chr8:4235983-4235984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149222164	chr8:4236006-4236007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189958920	chr8:4236007-4236008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372925984	chr8:4236011-4236012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544553577	chr8:4236012-4236013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7004716	chr8:4236024-4236025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs367807744	chr8:4236027-4236028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565338320	chr8:4236035-4236036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143221950	chr8:4236045-4236046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369773608	chr8:4236046-4236047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569148726	chr8:4236047-4236048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75765135	chr8:4236058-4236059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75308159	chr8:4236083-4236084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75389534	chr8:4236097-4236098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534777672	chr8:4236129-4236130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117387038	chr8:4236139-4236140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11785556	chr8:4236161-4236162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs538343760	chr8:4236184-4236185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556948495	chr8:4236189-4236190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565434412	chr8:4236192-4236193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572870586	chr8:4236204-4236205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554807598	chr8:4236216-4236217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35799660	chr8:4236230-4236231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540380277	chr8:4236235-4236236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112698487	chr8:4236238-4236239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547766811	chr8:4236252-4236253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568291779	chr8:4236299-4236300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577309171	chr8:4236305-4236306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143103193	chr8:4236312-4236313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562932191	chr8:4236314-4236315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147496419	chr8:4236317-4236318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34714143	chr8:4236319-4236320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572847481	chr8:4236320-4236321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182554996	chr8:4236323-4236324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117837697	chr8:4236327-4236328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	21346763	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4235800-4236000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:4236000-4236200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:4236200-4238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:4238800-4239200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:4238800-4239200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:4238800-4239400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:4238800-4239400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:4238800-4239400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:4239000-4239200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:4239000-4240000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:4240400-4240600	Enhancers	Psoas Muscle	Psoas

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