Variant report

Variant	nsv1021472
Chromosome Location	chr8:3984156-4077190
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..4018884,3	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..4019883,4	K562	blood:

Extended variants
information (count: 3996 )
Associated
traits (count: 129 )

Variant overlapped rSNPs/rCNVs (count:3996 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17069054	chr8:3984156-3984157	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150403236	chr8:3984164-3984165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547066729	chr8:3984176-3984177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116295104	chr8:3984190-3984191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376168875	chr8:3984192-3984193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187442623	chr8:3984195-3984196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551585090	chr8:3984196-3984197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546507740	chr8:3984198-3984199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192294848	chr8:3984211-3984212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555381430	chr8:3984212-3984213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1714790	chr8:3984214-3984215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534739286	chr8:3984216-3984217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552616502	chr8:3984225-3984226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577303964	chr8:3984229-3984230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367693304	chr8:3984248-3984249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557131971	chr8:3984251-3984252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575936296	chr8:3984279-3984280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112971815	chr8:3984294-3984295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542908401	chr8:3984295-3984296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574710121	chr8:3984301-3984302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184137524	chr8:3984320-3984321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138288570	chr8:3984325-3984326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142870516	chr8:3984327-3984328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540748703	chr8:3984334-3984335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565414348	chr8:3984342-3984343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187340157	chr8:3984344-3984345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146102382	chr8:3984375-3984376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569741579	chr8:3984410-3984411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530843567	chr8:3984425-3984426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548978052	chr8:3984427-3984428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370403309	chr8:3984433-3984434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139907021	chr8:3984436-3984437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534348735	chr8:3984437-3984438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149310178	chr8:3984438-3984439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62503600	chr8:3984442-3984443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78312063	chr8:3984453-3984454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557538199	chr8:3984460-3984461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144602339	chr8:3984466-3984467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575704975	chr8:3984480-3984481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537087451	chr8:3984497-3984498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1647333	chr8:3984499-3984500	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11787129	chr8:3984502-3984503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542508965	chr8:3984511-3984512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540661223	chr8:3984514-3984515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565277002	chr8:3984547-3984548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577454733	chr8:3984548-3984549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544677338	chr8:3984570-3984571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17069056	chr8:3984580-3984581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530584263	chr8:3984587-3984588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1647334	chr8:3984590-3984591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:108 , 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	chr8:3983800-3984200	Enhancers	Pancreas	Pancrea
12	chr8:3983800-3984800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:3984400-3985400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:3984600-3985600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:3985400-3985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:3985600-3985800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr8:3993800-3994800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:3993800-3994800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:3994000-3994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:3994000-3994800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:3994000-3994800	Enhancers	Brain Germinal Matrix	brain
22	chr8:3994800-3999800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:3997000-3997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:3999800-4000000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:4000000-4001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:4001200-4001800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:4001400-4001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:4001400-4001800	Enhancers	Fetal Lung	lung
29	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle
33	chr8:4011000-4011400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:4012800-4013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:4012800-4013600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:4024400-4025000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:4024400-4025000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:4024600-4025000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr8:4026400-4027200	Enhancers	HepG2	liver
40	chr8:4028400-4028600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:4028400-4028600	Enhancers	Pancreas	Pancrea
42	chr8:4031400-4031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:4049000-4049400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr8:4049000-4049800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:4049200-4049400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:4049200-4049800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:4049200-4050200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr8:4049200-4050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:4049200-4050400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:4049400-4049600	Enhancers	H9 Cell Line	embryonic stem cell

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