Variant report

Variant	nsv8341
Chromosome Location	chr8:51123911-51130847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576480716	chr8:51123924-51123925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73676273	chr8:51123939-51123940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562175625	chr8:51123961-51123962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537876914	chr8:51123993-51123994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529565824	chr8:51124113-51124114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16914489	chr8:51124118-51124119	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568229490	chr8:51124119-51124120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559380712	chr8:51124141-51124142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532918161	chr8:51124169-51124170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187329940	chr8:51124191-51124192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10086701	chr8:51124225-51124226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10086711	chr8:51124238-51124239	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549145737	chr8:51124241-51124242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144960293	chr8:51124243-51124244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7018082	chr8:51124276-51124277	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534915744	chr8:51124302-51124303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376607264	chr8:51124312-51124313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552891994	chr8:51124336-51124337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79036972	chr8:51124345-51124346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551523344	chr8:51124346-51124347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78789227	chr8:51124352-51124353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35606140	chr8:51124384-51124385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34913070	chr8:51124387-51124388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114688783	chr8:51124398-51124399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6988388	chr8:51124606-51124607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145521073	chr8:51124614-51124615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555923322	chr8:51124671-51124672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574191576	chr8:51124672-51124673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554465307	chr8:51124673-51124674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374755505	chr8:51124680-51124681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182463218	chr8:51124701-51124702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16914495	chr8:51124730-51124731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544988792	chr8:51124732-51124733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563171885	chr8:51124749-51124750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530606638	chr8:51124771-51124772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561129431	chr8:51124808-51124809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567446605	chr8:51124856-51124857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573034469	chr8:51124935-51124936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528223290	chr8:51124956-51124957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546410600	chr8:51125057-51125058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571173703	chr8:51125100-51125101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538452371	chr8:51125101-51125102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117088957	chr8:51125111-51125112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187173867	chr8:51125174-51125175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569995506	chr8:51125175-51125176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191785508	chr8:51125197-51125198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182881284	chr8:51125217-51125218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574084816	chr8:51125223-51125224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535204459	chr8:51125226-51125227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10108318	chr8:51125276-51125277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51122200-51124800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51124000-51125800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:51124800-51125800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51124800-51126000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:51125000-51125400	Enhancers	Fetal Brain Female	brain
6	chr8:51125000-51125600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:51125000-51125600	Enhancers	Brain Anterior Caudate	brain
8	chr8:51125000-51125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:51125000-51125800	Enhancers	Brain Germinal Matrix	brain
10	chr8:51125000-51126000	Enhancers	Osteobl	bone
11	chr8:51125400-51125800	Enhancers	Fetal Lung	lung
12	chr8:51125800-51127200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:51127200-51127400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:51127400-51127600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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