Variant report

Variant	nsv1027755
Chromosome Location	chr8:5244868-5264654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs185569103	chr8:5247609-5247610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75929157	chr8:5247611-5247612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547493827	chr8:5247627-5247628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190402980	chr8:5247649-5247650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191127660	chr8:5247654-5247655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542892159	chr8:5247671-5247672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528499055	chr8:5247675-5247676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528809070	chr8:5247682-5247683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183593476	chr8:5247691-5247692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540941567	chr8:5247719-5247720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368036893	chr8:5247720-5247721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575740736	chr8:5247726-5247727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6983746	chr8:5247731-5247732	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs142765038	chr8:5247750-5247751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569418828	chr8:5247759-5247760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529891789	chr8:5247769-5247770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548120741	chr8:5247800-5247801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188338431	chr8:5247805-5247806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533818838	chr8:5247815-5247816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6982657	chr8:5247816-5247817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570073784	chr8:5247823-5247824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537452186	chr8:5247870-5247871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181128090	chr8:5247873-5247874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574226528	chr8:5247881-5247882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536831260	chr8:5247888-5247889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554835081	chr8:5247911-5247912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550444652	chr8:5247933-5247934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139790390	chr8:5247979-5247980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186501823	chr8:5247984-5247985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565578629	chr8:5247994-5247995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190113284	chr8:5248001-5248002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116215637	chr8:5248043-5248044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149790720	chr8:5248044-5248045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181813457	chr8:5248089-5248090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548686380	chr8:5248097-5248098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560057433	chr8:5248119-5248120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6984369	chr8:5248126-5248127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570158999	chr8:5248131-5248132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs80337013	chr8:5248156-5248157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187215178	chr8:5248170-5248171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549393404	chr8:5248221-5248222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568068160	chr8:5248237-5248238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535165828	chr8:5248249-5248250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553839509	chr8:5248260-5248261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376793542	chr8:5248292-5248293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552611235	chr8:5248301-5248302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573306910	chr8:5248304-5248305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534439392	chr8:5248319-5248320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10866988	chr8:5248337-5248338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559282163	chr8:5248340-5248341	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
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
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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5247600-5248600	Enhancers	Fetal Brain Male	brain
2	chr8:5247800-5248200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:5247800-5248400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:5248000-5248400	Enhancers	Fetal Brain Female	brain
5	chr8:5248000-5248400	Enhancers	Fetal Muscle Leg	muscle
6	chr8:5257200-5258800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:5257800-5258000	Enhancers	Brain Germinal Matrix	brain
8	chr8:5258600-5258800	Enhancers	Brain Germinal Matrix	brain

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