Variant report

Variant	nsv1033283
Chromosome Location	chr8:4503347-4625732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145223411..145224951-chr8:4505239..4506739,2	K562	blood:
2	chr8:4614268..4616817-chr8:4617498..4620007,2	K562	blood:
3	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:
4	chr2:220553002..220553652-chr8:4562250..4563228,2	HCT-116	colon:
5	chr8:4614268..4616817-chr8:4617498..4620007,2	K562	blood:
6	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:
7	chr21:30519178..30519958-chr8:4582339..4582839,2	MCF-7	breast:
8	chr8:4501243..4502892-chr8:4505644..4507988,2	K562	blood:

Extended variants
information (count: 7530 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:7530 , 50 per page) page: 1 2 3 4 5 6 7 ... 151

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2617045	chr8:4503347-4503348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140421068	chr8:4503352-4503353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557453973	chr8:4503354-4503355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73190803	chr8:4503356-4503357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543073702	chr8:4503360-4503361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561777271	chr8:4503370-4503371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559398410	chr8:4503375-4503376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541216892	chr8:4503383-4503384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183990950	chr8:4503401-4503402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559632024	chr8:4503411-4503412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368478602	chr8:4503426-4503427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186980313	chr8:4503429-4503430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551686431	chr8:4503440-4503441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569864199	chr8:4503450-4503451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531699794	chr8:4503451-4503452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2617044	chr8:4503462-4503463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562068732	chr8:4503464-4503465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531120325	chr8:4503480-4503481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551223256	chr8:4503520-4503521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568208963	chr8:4503525-4503526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535602141	chr8:4503531-4503532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76202290	chr8:4503601-4503602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570980603	chr8:4503604-4503605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185834043	chr8:4503605-4503606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539663276	chr8:4503650-4503651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190307733	chr8:4503682-4503683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145229187	chr8:4503696-4503697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182280557	chr8:4503735-4503736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555443066	chr8:4503748-4503749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573775793	chr8:4503755-4503756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374588376	chr8:4503772-4503773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149170147	chr8:4503796-4503797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376475581	chr8:4503804-4503805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533545461	chr8:4503809-4503810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80119279	chr8:4503818-4503819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7841173	chr8:4503828-4503829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544895381	chr8:4503852-4503853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145921513	chr8:4503856-4503857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530756304	chr8:4503868-4503869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185236845	chr8:4503887-4503888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188784671	chr8:4503893-4503894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181215468	chr8:4503905-4503906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138859512	chr8:4503907-4503908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77779015	chr8:4503908-4503909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2725004	chr8:4503915-4503916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142879911	chr8:4503923-4503924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570319421	chr8:4503930-4503931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537388681	chr8:4503942-4503943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555379628	chr8:4503943-4503944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573711497	chr8:4503967-4503968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4503200-4508800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:4508800-4510000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:4509600-4510600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:4510000-4510600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:4510000-4510600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:4510200-4510800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:4510600-4514400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:4511400-4511600	Enhancers	Adipose Nuclei	Adipose
9	chr8:4511600-4512000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr8:4512000-4512200	Enhancers	Adipose Nuclei	Adipose
11	chr8:4514400-4514800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:4514600-4515000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:4514600-4515000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:4514800-4515000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:4514800-4515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:4515000-4518400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:4515200-4517000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:4517000-4517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:4517200-4518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:4518400-4518600	Enhancers	Fetal Brain Male	brain
21	chr8:4518400-4521200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:4518600-4521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:4518800-4519200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:4518800-4520000	Weak transcription	Fetal Brain Male	brain
25	chr8:4518800-4520200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:4519000-4520000	Enhancers	Brain Germinal Matrix	brain
27	chr8:4519200-4520200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:4519400-4519800	Enhancers	Brain Angular Gyrus	brain
29	chr8:4519400-4520000	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:4519600-4519800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:4519600-4519800	Enhancers	Fetal Brain Female	brain
32	chr8:4519800-4520200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:4519800-4520200	Active TSS	Brain Angular Gyrus	brain
34	chr8:4519800-4520200	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr8:4519800-4520400	Flanking Active TSS	Fetal Brain Female	brain
36	chr8:4519800-4520600	Active TSS	Brain Substantia Nigra	brain
37	chr8:4520000-4520200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:4520000-4520200	Active TSS	Brain Cingulate Gyrus	brain
39	chr8:4520000-4520200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:4520000-4520200	Active TSS	NH-A	brain
41	chr8:4520000-4520400	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr8:4520000-4520400	Active TSS	Brain Hippocampus Middle	brain
43	chr8:4520000-4520400	Enhancers	Fetal Brain Male	brain
44	chr8:4520000-4520600	Active TSS	Brain Anterior Caudate	brain
45	chr8:4520200-4520400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr8:4520200-4520400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:4520200-4520400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr8:4520200-4520400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:4520200-4520400	Flanking Active TSS	NH-A	brain
50	chr8:4520200-4520600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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