Variant report

Variant	nsv609877
Chromosome Location	chr8:4517817-4626560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 6344 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:6344 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2617026	chr8:4517817-4517818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548794365	chr8:4517822-4517823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560837094	chr8:4517825-4517826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528342504	chr8:4517833-4517834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372946144	chr8:4517864-4517865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181467805	chr8:4517875-4517876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148022000	chr8:4517879-4517880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565890905	chr8:4517883-4517884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533401925	chr8:4517905-4517906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375652006	chr8:4517907-4517908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551899077	chr8:4517926-4517927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570188653	chr8:4517975-4517976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185441054	chr8:4517982-4517983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537623076	chr8:4517994-4517995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554696876	chr8:4518001-4518002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189858902	chr8:4518010-4518011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370273317	chr8:4518012-4518013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553639517	chr8:4518014-4518015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577558120	chr8:4518015-4518016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544651573	chr8:4518018-4518019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148327521	chr8:4518056-4518057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73190836	chr8:4518086-4518087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116289612	chr8:4518127-4518128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560894767	chr8:4518132-4518133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141239986	chr8:4518134-4518135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73509086	chr8:4518139-4518140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150356048	chr8:4518162-4518163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533340008	chr8:4518169-4518170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551830955	chr8:4518192-4518193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570080408	chr8:4518201-4518202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530997543	chr8:4518217-4518218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74876465	chr8:4518220-4518221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113324810	chr8:4518221-4518222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148419072	chr8:4518222-4518223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372276171	chr8:4518226-4518227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567712907	chr8:4518227-4518228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138181932	chr8:4518248-4518249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553388047	chr8:4518262-4518263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376983547	chr8:4518269-4518270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571937533	chr8:4518352-4518353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574211682	chr8:4518355-4518356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371637976	chr8:4518361-4518362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556507480	chr8:4518364-4518365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574917515	chr8:4518375-4518376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35170769	chr8:4518408-4518409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12680893	chr8:4518427-4518428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12541342	chr8:4518456-4518457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575739075	chr8:4518463-4518464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572948238	chr8:4518505-4518506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143765421	chr8:4518517-4518518	Weak transcription Enhancers	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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4515000-4518400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:4517200-4518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:4518400-4518600	Enhancers	Fetal Brain Male	brain
4	chr8:4518400-4521200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:4518600-4521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:4518800-4519200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:4518800-4520000	Weak transcription	Fetal Brain Male	brain
8	chr8:4518800-4520200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:4519000-4520000	Enhancers	Brain Germinal Matrix	brain
10	chr8:4519200-4520200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:4519400-4519800	Enhancers	Brain Angular Gyrus	brain
12	chr8:4519400-4520000	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:4519600-4519800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:4519600-4519800	Enhancers	Fetal Brain Female	brain
15	chr8:4519800-4520200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:4519800-4520200	Active TSS	Brain Angular Gyrus	brain
17	chr8:4519800-4520200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr8:4519800-4520400	Flanking Active TSS	Fetal Brain Female	brain
19	chr8:4519800-4520600	Active TSS	Brain Substantia Nigra	brain
20	chr8:4520000-4520200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:4520000-4520200	Active TSS	Brain Cingulate Gyrus	brain
22	chr8:4520000-4520200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:4520000-4520200	Active TSS	NH-A	brain
24	chr8:4520000-4520400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr8:4520000-4520400	Active TSS	Brain Hippocampus Middle	brain
26	chr8:4520000-4520400	Enhancers	Fetal Brain Male	brain
27	chr8:4520000-4520600	Active TSS	Brain Anterior Caudate	brain
28	chr8:4520200-4520400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:4520200-4520400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:4520200-4520400	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr8:4520200-4520400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:4520200-4520400	Flanking Active TSS	NH-A	brain
33	chr8:4520200-4520600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:4520200-4520600	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr8:4520200-4520600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr8:4520200-4520800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:4520200-4521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:4520400-4520800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:4520400-4520800	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr8:4520400-4520800	Enhancers	NH-A	brain
41	chr8:4520400-4521200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:4520400-4521200	Weak transcription	Fetal Brain Female	brain
43	chr8:4520600-4520800	Enhancers	Brain Angular Gyrus	brain
44	chr8:4520600-4520800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr8:4520600-4520800	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr8:4522800-4523200	Enhancers	Fetal Heart	heart
47	chr8:4523200-4528400	Weak transcription	Fetal Heart	heart
48	chr8:4527800-4529400	Enhancers	Brain Germinal Matrix	brain
49	chr8:4528200-4529000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:4528400-4529600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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