Variant report

Variant	esv33211
Chromosome Location	chr8:60203407-60204968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536240981	chr8:60203409-60203410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552647486	chr8:60203422-60203423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73260032	chr8:60203498-60203499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535300428	chr8:60203525-60203526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181072212	chr8:60203584-60203585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78689397	chr8:60203609-60203610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543584528	chr8:60203627-60203628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563791713	chr8:60203667-60203668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574006743	chr8:60203725-60203726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78303617	chr8:60203754-60203755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561144718	chr8:60203777-60203778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185668412	chr8:60203802-60203803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544882464	chr8:60203857-60203858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564773892	chr8:60203860-60203861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149900519	chr8:60203921-60203922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550450989	chr8:60203963-60203964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28581972	chr8:60203966-60203967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529713937	chr8:60203982-60203983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556778551	chr8:60204074-60204075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546633860	chr8:60204097-60204098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566446497	chr8:60204102-60204103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535366059	chr8:60204157-60204158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558471914	chr8:60204183-60204184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571785683	chr8:60204184-60204185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143973918	chr8:60204262-60204263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557235329	chr8:60204296-60204297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574097305	chr8:60204314-60204315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148770026	chr8:60204329-60204330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552979950	chr8:60204339-60204340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572887645	chr8:60204343-60204344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541924748	chr8:60204344-60204345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559585269	chr8:60204363-60204364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142379247	chr8:60204380-60204381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190284234	chr8:60204402-60204403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375882098	chr8:60204403-60204404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544405413	chr8:60204442-60204443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368805512	chr8:60204482-60204483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561819541	chr8:60204489-60204490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372024270	chr8:60204508-60204509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76724642	chr8:60204552-60204553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11776006	chr8:60204598-60204599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151302878	chr8:60204618-60204619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182873129	chr8:60204630-60204631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566506337	chr8:60204647-60204648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532133044	chr8:60204652-60204653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552146425	chr8:60204666-60204667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72653669	chr8:60204674-60204675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537314411	chr8:60204694-60204695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186189109	chr8:60204695-60204696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191853456	chr8:60204739-60204740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60196200-60213000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:60202200-60204600	Enhancers	Fetal Brain Male	brain
3	chr8:60202600-60203800	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links