Variant report

Variant	nsv824629
Chromosome Location	chr8:52660203-52661913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145561845	chr8:52660267-52660268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542806599	chr8:52660330-52660331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536654250	chr8:52660526-52660527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148915622	chr8:52660527-52660528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540149278	chr8:52660550-52660551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549731154	chr8:52660585-52660586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182680641	chr8:52660596-52660597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531992157	chr8:52660672-52660673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544317943	chr8:52660678-52660679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566254608	chr8:52660717-52660718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554714418	chr8:52660753-52660754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531018916	chr8:52660814-52660815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549118205	chr8:52660862-52660863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528742777	chr8:52660867-52660868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142696949	chr8:52660876-52660877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546959690	chr8:52660884-52660885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558192092	chr8:52660890-52660891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4873204	chr8:52660930-52660931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77025783	chr8:52660964-52660965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557502194	chr8:52660988-52660989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569329515	chr8:52660989-52660990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536743106	chr8:52661012-52661013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117134887	chr8:52661025-52661026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572938189	chr8:52661045-52661046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540549275	chr8:52661062-52661063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558545294	chr8:52661080-52661081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576788955	chr8:52661112-52661113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187003418	chr8:52661159-52661160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151000462	chr8:52661209-52661210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141238524	chr8:52661255-52661256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144962144	chr8:52661321-52661322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574376751	chr8:52661322-52661323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191781813	chr8:52661328-52661329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183563542	chr8:52661334-52661335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565402493	chr8:52661354-52661355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532544078	chr8:52661398-52661399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551044077	chr8:52661428-52661429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569266884	chr8:52661453-52661454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536779087	chr8:52661479-52661480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548680994	chr8:52661488-52661489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188606973	chr8:52661507-52661508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146825988	chr8:52661515-52661516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557094374	chr8:52661544-52661545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376135286	chr8:52661598-52661599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558823959	chr8:52661662-52661663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140605340	chr8:52661766-52661767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567357861	chr8:52661789-52661790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4543529	chr8:52661793-52661794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555779033	chr8:52661839-52661840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150468606	chr8:52661864-52661865	Weak transcription	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
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52644000-52665400	Weak transcription	Right Ventricle	heart
2	chr8:52658600-52661000	Weak transcription	Right Atrium	heart
3	chr8:52659800-52661000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:52660200-52660800	Enhancers	Fetal Kidney	kidney
5	chr8:52660200-52661400	Enhancers	Psoas Muscle	Psoas
6	chr8:52660400-52661400	Enhancers	Left Ventricle	heart
7	chr8:52660800-52665200	Weak transcription	Fetal Kidney	kidney
8	chr8:52661000-52661200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:52661000-52661400	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:52661000-52661400	Enhancers	Right Atrium	heart
11	chr8:52661000-52661400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:52661200-52665000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:52661400-52666400	Weak transcription	Psoas Muscle	Psoas
14	chr8:52661400-52671400	Weak transcription	Right Atrium	heart
15	chr8:52661400-52683200	Weak transcription	Left Ventricle	heart
16	chr8:52661600-52664400	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links