Variant report

Variant	nsv525765
Chromosome Location	chr8:51269514-51284501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 598 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16914760	chr8:51269514-51269515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77997721	chr8:51269545-51269546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563410282	chr8:51269564-51269565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141382207	chr8:51269595-51269596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534439726	chr8:51269607-51269608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552793202	chr8:51269615-51269616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571168347	chr8:51269624-51269625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538491316	chr8:51269639-51269640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556142897	chr8:51269707-51269708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574386668	chr8:51269719-51269720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115366268	chr8:51269739-51269740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553636062	chr8:51269746-51269747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11991343	chr8:51269771-51269772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372785840	chr8:51269795-51269796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145258372	chr8:51269797-51269798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563892998	chr8:51269802-51269803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137867340	chr8:51269819-51269820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543317384	chr8:51269831-51269832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140692152	chr8:51269857-51269858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548009892	chr8:51269901-51269902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11998724	chr8:51269929-51269930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183253192	chr8:51269942-51269943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186532336	chr8:51269945-51269946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117962542	chr8:51269946-51269947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552805310	chr8:51269999-51270000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562758164	chr8:51270035-51270036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571026673	chr8:51270061-51270062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150125438	chr8:51270089-51270090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190463324	chr8:51270123-51270124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138451444	chr8:51270140-51270141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535148133	chr8:51270146-51270147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142324055	chr8:51270169-51270170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553690275	chr8:51270203-51270204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547332714	chr8:51270215-51270216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571812937	chr8:51270294-51270295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539119761	chr8:51270352-51270353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570429668	chr8:51270360-51270361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557547609	chr8:51270362-51270363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575866886	chr8:51270363-51270364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543581656	chr8:51270399-51270400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561880257	chr8:51270465-51270466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16914762	chr8:51270474-51270475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541866809	chr8:51270489-51270490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539034923	chr8:51270516-51270517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550554703	chr8:51270527-51270528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146983946	chr8:51270536-51270537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144014954	chr8:51270545-51270546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78976237	chr8:51270557-51270558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372406085	chr8:51270580-51270581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527807039	chr8:51270610-51270611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51243200-51271600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51268800-51271600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr8:51268800-51271800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr8:51269000-51273800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:51269400-51270000	Enhancers	Spleen	Spleen
6	chr8:51269600-51272000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:51270000-51270400	Weak transcription	Spleen	Spleen
8	chr8:51270400-51271800	Enhancers	Spleen	Spleen
9	chr8:51271400-51272000	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:51271600-51272000	Enhancers	Fetal Intestine Large	intestine
11	chr8:51271600-51272000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:51271600-51272200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:51271600-51272200	Enhancers	Fetal Intestine Small	intestine
14	chr8:51271800-51272200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:51271800-51272200	Enhancers	Brain Germinal Matrix	brain
16	chr8:51271800-51275800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:51272000-51275400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:51272000-51275800	Weak transcription	Fetal Intestine Large	intestine
19	chr8:51273800-51274200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:51274200-51276400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:51275400-51275800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr8:51275800-51276400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr8:51275800-51276600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr8:51275800-51276800	Enhancers	Fetal Intestine Large	intestine
25	chr8:51276400-51276800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr8:51276400-51276800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr8:51276600-51289000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:51276800-51277200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:51276800-51278800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:51278800-51279000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
31	chr8:51279000-51283000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:51283000-51283800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:51283800-51287600	Weak transcription	Rectal Mucosa Donor 31	rectum

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