Variant report

Variant	nsv971235
Chromosome Location	chr8:51406133-51409639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190636584	chr8:51406136-51406137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561639111	chr8:51406161-51406162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183788044	chr8:51406170-51406171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147976393	chr8:51406301-51406302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200844427	chr8:51406375-51406376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565874523	chr8:51406383-51406384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533301757	chr8:51406411-51406412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16914954	chr8:51406464-51406465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141700948	chr8:51406472-51406473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537859053	chr8:51406537-51406538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191962422	chr8:51406556-51406557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571696330	chr8:51406565-51406566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556472361	chr8:51406568-51406569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568260073	chr8:51406576-51406577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541473534	chr8:51406630-51406631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553979934	chr8:51406635-51406636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80305986	chr8:51406680-51406681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546350800	chr8:51406702-51406703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558183600	chr8:51406712-51406713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13251708	chr8:51406716-51406717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574981995	chr8:51406717-51406718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561722507	chr8:51406721-51406722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529041345	chr8:51406731-51406732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556023288	chr8:51406767-51406768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375326872	chr8:51406809-51406810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545425923	chr8:51406852-51406853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559618110	chr8:51406864-51406865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533175159	chr8:51406885-51406886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551511297	chr8:51406922-51406923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569853642	chr8:51406940-51406941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144665636	chr8:51406956-51406957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549946391	chr8:51407024-51407025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542059206	chr8:51407036-51407037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2625739	chr8:51407043-51407044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372419019	chr8:51407073-51407074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193114943	chr8:51407164-51407165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2623222	chr8:51407221-51407222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2625740	chr8:51407232-51407233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184291034	chr8:51407267-51407268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558286180	chr8:51407315-51407316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576712474	chr8:51407377-51407378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51404200-51407400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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