Variant report

Variant	nsv889976
Chromosome Location	chr8:4750266-4824335
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	chr8:4805755..4808307-chr8:4809361..4811905,2	K562	blood:
2	chr8:4805755..4808307-chr8:4809361..4811905,2	K562	blood:

Extended variants
information (count: 2828 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2828 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7007881	chr8:4750266-4750267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75905385	chr8:4750281-4750282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6987123	chr8:4750304-4750305	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570023447	chr8:4750308-4750309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67234356	chr8:4750310-4750311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533104349	chr8:4750335-4750336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549460392	chr8:4750336-4750337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150618022	chr8:4750379-4750380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140666926	chr8:4750391-4750392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553577398	chr8:4750514-4750515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578257546	chr8:4750519-4750520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539325266	chr8:4750529-4750530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556724930	chr8:4750551-4750552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575175663	chr8:4750552-4750553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543360153	chr8:4750555-4750556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542215024	chr8:4750588-4750589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547203709	chr8:4750604-4750605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563282105	chr8:4750627-4750628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181739463	chr8:4750647-4750648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572574238	chr8:4750656-4750657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540063659	chr8:4750666-4750667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144619606	chr8:4750672-4750673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6558932	chr8:4750707-4750708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550848379	chr8:4750713-4750714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77820719	chr8:4750729-4750730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530945088	chr8:4750732-4750733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185995857	chr8:4750734-4750735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147494047	chr8:4750735-4750736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190317989	chr8:4750750-4750751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182607394	chr8:4750765-4750766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139962919	chr8:4750769-4750770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111726811	chr8:4750782-4750783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6558933	chr8:4750791-4750792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547825730	chr8:4750799-4750800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190760165	chr8:4750814-4750815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371982284	chr8:4750824-4750825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149938771	chr8:4750847-4750848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576287586	chr8:4750849-4750850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558180083	chr8:4750880-4750881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539945442	chr8:4750881-4750882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572636556	chr8:4750889-4750890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372085626	chr8:4750897-4750898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184202306	chr8:4750898-4750899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538898010	chr8:4750912-4750913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534037001	chr8:4750914-4750915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558377812	chr8:4750936-4750937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1370756	chr8:4750937-4750938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544036689	chr8:4750943-4750944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367947701	chr8:4751030-4751031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572725620	chr8:4751036-4751037	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

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
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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4749600-4751400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:4749800-4751600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:4750600-4751600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:4751000-4751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:4751400-4753600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:4751600-4754000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:4753400-4753800	Enhancers	Fetal Intestine Small	intestine
8	chr8:4753600-4754200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:4754000-4754600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:4754000-4754600	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:4754000-4755000	Active TSS	Fetal Intestine Large	intestine
12	chr8:4754000-4755000	Active TSS	Fetal Intestine Small	intestine
13	chr8:4754200-4754800	Active TSS	Liver	Liver
14	chr8:4761800-4762200	Enhancers	Fetal Intestine Large	intestine
15	chr8:4761800-4762600	Enhancers	Fetal Intestine Small	intestine
16	chr8:4762200-4763200	Weak transcription	Fetal Intestine Large	intestine
17	chr8:4763400-4763600	Enhancers	Fetal Intestine Large	intestine
18	chr8:4766400-4778400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:4769600-4777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:4773000-4773600	Enhancers	Fetal Brain Male	brain
21	chr8:4777200-4777600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
22	chr8:4777600-4778000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:4783400-4783800	Enhancers	Liver	Liver
24	chr8:4783800-4784400	Flanking Active TSS	Liver	Liver
25	chr8:4783800-4785200	Enhancers	HepG2	liver
26	chr8:4784400-4784600	Active TSS	Liver	Liver
27	chr8:4784600-4785000	Flanking Active TSS	Liver	Liver
28	chr8:4784800-4785400	Enhancers	Fetal Intestine Small	intestine
29	chr8:4785000-4785800	Enhancers	Liver	Liver
30	chr8:4795000-4795400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:4806600-4807400	Enhancers	Adipose Nuclei	Adipose
32	chr8:4807400-4811200	Weak transcription	Adipose Nuclei	Adipose
33	chr8:4810400-4811200	Enhancers	Liver	Liver
34	chr8:4811200-4811400	Flanking Active TSS	Liver	Liver
35	chr8:4811200-4811600	Enhancers	Fetal Intestine Large	intestine
36	chr8:4811200-4811600	Enhancers	Fetal Intestine Small	intestine
37	chr8:4811200-4813000	Enhancers	Adipose Nuclei	Adipose
38	chr8:4811400-4811600	Enhancers	Liver	Liver
39	chr8:4811400-4811800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:4811600-4811800	Flanking Active TSS	Liver	Liver
41	chr8:4811800-4813600	Enhancers	Liver	Liver
42	chr8:4815200-4815800	Enhancers	Fetal Brain Male	brain
43	chr8:4815800-4818000	Weak transcription	Fetal Brain Male	brain
44	chr8:4816600-4817000	Enhancers	Fetal Heart	heart
45	chr8:4816800-4817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:4816800-4817200	Enhancers	Esophagus	oesophagus
47	chr8:4817000-4817200	Flanking Active TSS	Fetal Heart	heart
48	chr8:4817200-4817800	Enhancers	Fetal Heart	heart
49	chr8:4818000-4818200	Enhancers	Fetal Brain Male	brain
50	chr8:4818200-4818800	Weak transcription	Fetal Brain Male	brain

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