Variant report

Variant	nsv889929
Chromosome Location	chr8:3947325-3964022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 762 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:762 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183291234	chr8:3953800-3953801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372541284	chr8:3953814-3953815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554416440	chr8:3953826-3953827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78462626	chr8:3953832-3953833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188014938	chr8:3953850-3953851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540519529	chr8:3953851-3953852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59961277	chr8:3953854-3953855	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs59286892	chr8:3953859-3953860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374382244	chr8:3953870-3953871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562555006	chr8:3953903-3953904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17068949	chr8:3953954-3953955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530891729	chr8:3953965-3953966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149560771	chr8:3953970-3953971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551485951	chr8:3953991-3953992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192873704	chr8:3954002-3954003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549500926	chr8:3954022-3954023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7839158	chr8:3954057-3954058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs79962034	chr8:3954073-3954074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73173813	chr8:3954087-3954088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11440495	chr8:3954093-3954094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397738089	chr8:3954095-3954096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565847479	chr8:3954096-3954097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375609905	chr8:3954102-3954103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539374413	chr8:3954115-3954116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73173814	chr8:3954123-3954124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569560453	chr8:3954139-3954140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7816866	chr8:3954143-3954144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs554942456	chr8:3954148-3954149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573443829	chr8:3954150-3954151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540711211	chr8:3954174-3954175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183822659	chr8:3954179-3954180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs578096511	chr8:3954188-3954189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148731820	chr8:3954196-3954197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7816895	chr8:3954216-3954217	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531226970	chr8:3954220-3954221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78461408	chr8:3954232-3954233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561248871	chr8:3954233-3954234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146715953	chr8:3954236-3954237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17404267	chr8:3954244-3954245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs386721211	chr8:3954262-3954263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7839451	chr8:3954263-3954264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375018945	chr8:3954273-3954274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534475990	chr8:3954288-3954289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150391543	chr8:3954290-3954291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533109878	chr8:3954293-3954294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548203712	chr8:3954303-3954304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369195153	chr8:3954315-3954316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569983697	chr8:3954317-3954318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536940757	chr8:3954325-3954326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372063484	chr8:3954329-3954330	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
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

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3953800-3955200	Enhancers	Fetal Brain Female	brain
2	chr8:3954200-3954800	Enhancers	Fetal Brain Male	brain
3	chr8:3958000-3958400	Enhancers	Liver	Liver
4	chr8:3958400-3958600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr8:3958400-3958600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:3958400-3959000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:3958400-3959000	Flanking Active TSS	Liver	Liver
8	chr8:3958400-3959600	Enhancers	Fetal Muscle Leg	muscle
9	chr8:3958600-3958800	Active TSS	Adipose Nuclei	Adipose
10	chr8:3958600-3959600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:3958600-3959600	Enhancers	Fetal Lung	lung
12	chr8:3958600-3962200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:3958600-3963800	Enhancers	HepG2	liver
14	chr8:3958800-3959000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:3958800-3959000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr8:3958800-3959600	Enhancers	Pancreas	Pancrea
17	chr8:3958800-3962600	Enhancers	Fetal Intestine Large	intestine
18	chr8:3958800-3962600	Enhancers	Fetal Intestine Small	intestine
19	chr8:3959000-3959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:3959000-3959400	Enhancers	Liver	Liver
21	chr8:3959000-3960400	Enhancers	Adipose Nuclei	Adipose
22	chr8:3959000-3961600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:3959200-3959800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:3959400-3959600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:3959400-3959600	Flanking Active TSS	Liver	Liver
26	chr8:3959400-3959600	Enhancers	Gastric	stomach
27	chr8:3959400-3960200	Enhancers	Stomach Mucosa	stomach
28	chr8:3959600-3960000	Weak transcription	Fetal Lung	lung
29	chr8:3959600-3961400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:3959600-3961400	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:3959600-3961400	Weak transcription	Gastric	stomach
32	chr8:3959600-3961400	Weak transcription	Pancreas	Pancrea
33	chr8:3959600-3961800	Enhancers	Liver	Liver
34	chr8:3959800-3961200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:3960000-3960200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:3960000-3960400	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:3960000-3960800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr8:3960000-3961800	Enhancers	Fetal Lung	lung
39	chr8:3960200-3961400	Weak transcription	Stomach Mucosa	stomach
40	chr8:3960400-3961000	Weak transcription	Adipose Nuclei	Adipose
41	chr8:3960400-3961400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:3960400-3961800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:3960800-3961200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr8:3961000-3962000	Enhancers	Adipose Nuclei	Adipose
45	chr8:3961200-3962600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:3961200-3964800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:3961400-3961600	Enhancers	Fetal Muscle Trunk	muscle
48	chr8:3961400-3961800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:3961400-3962000	Enhancers	Esophagus	oesophagus
50	chr8:3961400-3962000	Enhancers	Fetal Heart	heart

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