Variant report

Variant	nsv6053
Chromosome Location	chr8:3770507-3802316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1149 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:1149 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530028537	chr8:3779201-3779202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116689898	chr8:3779210-3779211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376547037	chr8:3779238-3779239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566827905	chr8:3779240-3779241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534194828	chr8:3779252-3779253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34971940	chr8:3779261-3779262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559124732	chr8:3779264-3779265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78440937	chr8:3779283-3779284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543268197	chr8:3779293-3779294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563413881	chr8:3779304-3779305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538757069	chr8:3779322-3779323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10088281	chr8:3779336-3779337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186670492	chr8:3779339-3779340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542645158	chr8:3779342-3779343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554575489	chr8:3779360-3779361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2912269	chr8:3779372-3779373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540139385	chr8:3779377-3779378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11781306	chr8:3779383-3779384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191431131	chr8:3779397-3779398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562651991	chr8:3779402-3779403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183233182	chr8:3779405-3779406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188047828	chr8:3779449-3779450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566495526	chr8:3779456-3779457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1582766	chr8:3779457-3779458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs373307334	chr8:3779469-3779470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75594436	chr8:3779470-3779471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112956480	chr8:3779487-3779488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538048237	chr8:3779515-3779516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556668566	chr8:3779519-3779520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568991980	chr8:3779529-3779530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1582765	chr8:3779535-3779536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs568542576	chr8:3779570-3779571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565335093	chr8:3791205-3791206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533332767	chr8:3791209-3791210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10503223	chr8:3791218-3791219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371120613	chr8:3791228-3791229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530539742	chr8:3791232-3791233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369842288	chr8:3791241-3791242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559139846	chr8:3791244-3791245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548974541	chr8:3791248-3791249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115357154	chr8:3791251-3791252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541055726	chr8:3791264-3791265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2688267	chr8:3791265-3791266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547772464	chr8:3791267-3791268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149541902	chr8:3791268-3791269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546822203	chr8:3791282-3791283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567761908	chr8:3791292-3791293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571358424	chr8:3791307-3791308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538408234	chr8:3791316-3791317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368418800	chr8:3791320-3791321	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3779200-3779600	Enhancers	Fetal Brain Male	brain
2	chr8:3791200-3791600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:3791600-3793800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:3793800-3794200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr8:3794200-3810000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:3795800-3796400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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