Variant report

Variant	esv3372475
Chromosome Location	chr8:50900549-50903947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533308258	chr8:50900561-50900562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs318910	chr8:50900582-50900583	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs77396794	chr8:50900588-50900589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531208732	chr8:50900589-50900590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs318911	chr8:50900602-50900603	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78171300	chr8:50900609-50900610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545153989	chr8:50900619-50900620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546664438	chr8:50900653-50900654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189052238	chr8:50900670-50900671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs4242456	chr8:50900753-50900754	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs199937734	chr8:50900769-50900770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79556019	chr8:50900791-50900792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs193251190	chr8:50900819-50900820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185717831	chr8:50900847-50900848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554425415	chr8:50900858-50900859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs78495988	chr8:50900859-50900860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs572850806	chr8:50900888-50900889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138942656	chr8:50900916-50900917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78941230	chr8:50900931-50900932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141600278	chr8:50900937-50900938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545194329	chr8:50900938-50900939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563873492	chr8:50900950-50900951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs13281419	chr8:50901008-50901009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536777691	chr8:50901065-50901066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540453242	chr8:50901066-50901067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13274296	chr8:50901068-50901069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557004446	chr8:50901087-50901088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13274314	chr8:50901093-50901094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530997803	chr8:50901120-50901121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543271472	chr8:50901160-50901161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13274620	chr8:50901185-50901186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13274637	chr8:50901199-50901200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs318912	chr8:50901280-50901281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528834891	chr8:50901287-50901288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189295966	chr8:50901314-50901315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4873121	chr8:50901335-50901336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566528635	chr8:50901337-50901338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117426668	chr8:50901341-50901342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556090599	chr8:50901386-50901387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532607040	chr8:50901397-50901398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50898600-50901000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:50901000-50901400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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