Variant report

Variant	nsv609800
Chromosome Location	chr8:3983592-4076049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
3	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:

Extended variants
information (count: 3935 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:3935 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1714791	chr8:3983592-3983593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372463645	chr8:3983601-3983602	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190203763	chr8:3983610-3983611	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144927632	chr8:3983624-3983625	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572356814	chr8:3983626-3983627	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545845876	chr8:3983638-3983639	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115947615	chr8:3983655-3983656	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576241618	chr8:3983656-3983657	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182431484	chr8:3983659-3983660	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114492549	chr8:3983673-3983674	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562143116	chr8:3983717-3983718	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186608353	chr8:3983721-3983722	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190592770	chr8:3983743-3983744	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559652962	chr8:3983777-3983778	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533424455	chr8:3983809-3983810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377253906	chr8:3983815-3983816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73176315	chr8:3983820-3983821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569674884	chr8:3983822-3983823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537151552	chr8:3983823-3983824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549429813	chr8:3983824-3983825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182462896	chr8:3983830-3983831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185615533	chr8:3983839-3983840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147081496	chr8:3983840-3983841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147714875	chr8:3983850-3983851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539732119	chr8:3983877-3983878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557793790	chr8:3983887-3983888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576058439	chr8:3983892-3983893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189692037	chr8:3983894-3983895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561787530	chr8:3983899-3983900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531380890	chr8:3983906-3983907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541638056	chr8:3983914-3983915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182345662	chr8:3983922-3983923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142563989	chr8:3983931-3983932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551613054	chr8:3983940-3983941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187896026	chr8:3983953-3983954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193029364	chr8:3983975-3983976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549094127	chr8:3983977-3983978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548131965	chr8:3983987-3983988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74418611	chr8:3983996-3983997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143390685	chr8:3984003-3984004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184127546	chr8:3984007-3984008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565836410	chr8:3984050-3984051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61299396	chr8:3984056-3984057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558053950	chr8:3984060-3984061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569682786	chr8:3984061-3984062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17332797	chr8:3984068-3984069	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148386607	chr8:3984079-3984080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553154010	chr8:3984084-3984085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141392953	chr8:3984090-3984091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545311674	chr8:3984100-3984101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:129)

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
Tetralogy of Fallot	22912587	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3981600-3984400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr8:3981600-3984400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:3981600-3984600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:3981800-3984400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:3981800-3984600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:3981800-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:3982000-3984600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:3982200-3984400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:3982800-3984400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:3983000-3984200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:3983200-3983600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:3983200-3983600	Enhancers	Fetal Kidney	kidney
13	chr8:3983400-3983800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:3983600-3984000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:3983800-3984200	Enhancers	Pancreas	Pancrea
16	chr8:3983800-3984800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:3984400-3985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:3984600-3985600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:3985400-3985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:3985600-3985800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:3993800-3994800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:3993800-3994800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:3994000-3994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:3994000-3994800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:3994000-3994800	Enhancers	Brain Germinal Matrix	brain
26	chr8:3994800-3999800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:3997000-3997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:3999800-4000000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:4000000-4001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:4001200-4001800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:4001400-4001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:4001400-4001800	Enhancers	Fetal Lung	lung
33	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle
37	chr8:4011000-4011400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:4012800-4013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:4012800-4013600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:4024400-4025000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:4024400-4025000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:4024600-4025000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:4026400-4027200	Enhancers	HepG2	liver
44	chr8:4028400-4028600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:4028400-4028600	Enhancers	Pancreas	Pancrea
46	chr8:4031400-4031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:4049000-4049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:4049000-4049800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:4049200-4049400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:4049200-4049800	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links