Variant report

Variant	nsv429843
Chromosome Location	chr8:3996782-4031822
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..4019883,4	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:

Extended variants
information (count: 1002 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373766534	chr8:3996783-3996784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537570212	chr8:3996784-3996785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376155896	chr8:3996786-3996787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367804962	chr8:3996791-3996792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542042321	chr8:3996797-3996798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554035309	chr8:3996801-3996802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145567921	chr8:3996807-3996808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545797847	chr8:3996811-3996812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1356655	chr8:3996813-3996814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372873855	chr8:3996824-3996825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377456528	chr8:3996826-3996827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372606316	chr8:3996827-3996828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371072692	chr8:3996828-3996829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553246377	chr8:3996837-3996838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117604837	chr8:3996839-3996840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191873551	chr8:3996840-3996841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116996758	chr8:3996852-3996853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145390623	chr8:3996857-3996858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115622544	chr8:3996865-3996866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370902413	chr8:3996869-3996870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202061868	chr8:3996870-3996871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74592436	chr8:3996875-3996876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77046354	chr8:3996878-3996879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553648709	chr8:3996882-3996883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149221956	chr8:3996886-3996887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575834509	chr8:3996891-3996892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545814897	chr8:3996901-3996902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372879711	chr8:3996903-3996904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575348519	chr8:3996922-3996923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117773023	chr8:3996923-3996924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143410302	chr8:3996935-3996936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386721229	chr8:3996939-3996940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575681402	chr8:3996945-3996946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386721230	chr8:3996956-3996957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76019810	chr8:3996957-3996958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540259866	chr8:3996960-3996961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541633821	chr8:3996964-3996965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560877477	chr8:3996969-3996970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559725518	chr8:3996978-3996979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28585572	chr8:3996982-3996983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73176395	chr8:3996983-3996984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs3849824	chr8:3996986-3996987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140559345	chr8:3996995-3996996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563037566	chr8:3996997-3996998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549354563	chr8:3996998-3996999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567773674	chr8:3996999-3997000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145686007	chr8:3997005-3997006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76581888	chr8:3997034-3997035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75031315	chr8:3997037-3997038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539619171	chr8:3997046-3997047	Enhancers 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
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
Ependymoma	20639864	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3994800-3999800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3997000-3997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:3999800-4000000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:4000000-4001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:4001200-4001800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:4001400-4001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:4001400-4001800	Enhancers	Fetal Lung	lung
8	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle
12	chr8:4011000-4011400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:4012800-4013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:4012800-4013600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:4024400-4025000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:4024400-4025000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:4024600-4025000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:4026400-4027200	Enhancers	HepG2	liver
19	chr8:4028400-4028600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:4028400-4028600	Enhancers	Pancreas	Pancrea
21	chr8:4031400-4031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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