Variant report

Variant	nsv1034882
Chromosome Location	chr8:4519946-4535022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:
2	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:

Extended variants
information (count: 1012 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2724962	chr8:4519946-4519947	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539362424	chr8:4519959-4519960	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs377077222	chr8:4519960-4519961	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184097997	chr8:4519983-4519984	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7833296	chr8:4519988-4519989	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188632402	chr8:4519999-4520000	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545512768	chr8:4520008-4520009	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574972539	chr8:4520013-4520014	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542085474	chr8:4520040-4520041	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553684242	chr8:4520052-4520053	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115255082	chr8:4520058-4520059	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573864173	chr8:4520080-4520081	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572618363	chr8:4520082-4520083	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145747422	chr8:4520085-4520086	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73509096	chr8:4520089-4520090	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368462386	chr8:4520109-4520110	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549896122	chr8:4520118-4520119	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561680478	chr8:4520135-4520136	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529065693	chr8:4520170-4520171	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148962779	chr8:4520178-4520179	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7465653	chr8:4520179-4520180	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539298956	chr8:4520198-4520199	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551268932	chr8:4520200-4520201	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143542161	chr8:4520202-4520203	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550150863	chr8:4520258-4520259	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537895485	chr8:4520282-4520283	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185996475	chr8:4520284-4520285	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs59411106	chr8:4520288-4520289	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531512987	chr8:4520318-4520319	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs545552479	chr8:4520327-4520328	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189441940	chr8:4520334-4520335	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554046084	chr8:4520336-4520337	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs142271108	chr8:4520339-4520340	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546480970	chr8:4520342-4520343	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs182293644	chr8:4520346-4520347	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs187328494	chr8:4520359-4520360	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375077007	chr8:4520385-4520386	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs564813856	chr8:4520389-4520390	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs576105536	chr8:4520457-4520458	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543473258	chr8:4520466-4520467	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565371148	chr8:4520473-4520474	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561736868	chr8:4520511-4520512	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528952010	chr8:4520537-4520538	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547469137	chr8:4520541-4520542	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559240288	chr8:4520543-4520544	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191700145	chr8:4520550-4520551	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1478277	chr8:4520557-4520558	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183101517	chr8:4520586-4520587	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185948009	chr8:4520588-4520589	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547482327	chr8:4520592-4520593	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4518400-4521200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:4518600-4521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:4518800-4520000	Weak transcription	Fetal Brain Male	brain
4	chr8:4518800-4520200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:4519000-4520000	Enhancers	Brain Germinal Matrix	brain
6	chr8:4519200-4520200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:4519400-4520000	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:4519800-4520200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:4519800-4520200	Active TSS	Brain Angular Gyrus	brain
10	chr8:4519800-4520200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr8:4519800-4520400	Flanking Active TSS	Fetal Brain Female	brain
12	chr8:4519800-4520600	Active TSS	Brain Substantia Nigra	brain
13	chr8:4520000-4520200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:4520000-4520200	Active TSS	Brain Cingulate Gyrus	brain
15	chr8:4520000-4520200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:4520000-4520200	Active TSS	NH-A	brain
17	chr8:4520000-4520400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr8:4520000-4520400	Active TSS	Brain Hippocampus Middle	brain
19	chr8:4520000-4520400	Enhancers	Fetal Brain Male	brain
20	chr8:4520000-4520600	Active TSS	Brain Anterior Caudate	brain
21	chr8:4520200-4520400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:4520200-4520400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:4520200-4520400	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr8:4520200-4520400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:4520200-4520400	Flanking Active TSS	NH-A	brain
26	chr8:4520200-4520600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:4520200-4520600	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr8:4520200-4520600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:4520200-4520800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:4520200-4521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:4520400-4520800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:4520400-4520800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr8:4520400-4520800	Enhancers	NH-A	brain
34	chr8:4520400-4521200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:4520400-4521200	Weak transcription	Fetal Brain Female	brain
36	chr8:4520600-4520800	Enhancers	Brain Angular Gyrus	brain
37	chr8:4520600-4520800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr8:4520600-4520800	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr8:4522800-4523200	Enhancers	Fetal Heart	heart
40	chr8:4523200-4528400	Weak transcription	Fetal Heart	heart
41	chr8:4527800-4529400	Enhancers	Brain Germinal Matrix	brain
42	chr8:4528200-4529000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:4528400-4529600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:4528400-4529800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:4528400-4530000	Enhancers	Fetal Heart	heart
46	chr8:4528600-4528800	Enhancers	Fetal Brain Male	brain
47	chr8:4528600-4529200	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:4529800-4532200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:4530000-4533200	Weak transcription	Fetal Heart	heart
50	chr8:4530200-4530600	Active TSS	Fetal Lung	lung

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