Variant report

Variant	esv13664
Chromosome Location	chr8:52023759-52033873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 287 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193173549	chr8:52027615-52027616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145849793	chr8:52027619-52027620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7840774	chr8:52027696-52027697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541076847	chr8:52027697-52027698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7827814	chr8:52027700-52027701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559653358	chr8:52027740-52027741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568448044	chr8:52027794-52027795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188026682	chr8:52028009-52028010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7824553	chr8:52028013-52028014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540965222	chr8:52028066-52028067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150343353	chr8:52028103-52028104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7828447	chr8:52028112-52028113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191339615	chr8:52028120-52028121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564619747	chr8:52028140-52028141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531874515	chr8:52028174-52028175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138090875	chr8:52028189-52028190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531088965	chr8:52028205-52028206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568515344	chr8:52028210-52028211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183958845	chr8:52028217-52028218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149533444	chr8:52028245-52028246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7841651	chr8:52028265-52028266	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540047936	chr8:52028295-52028296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563421524	chr8:52028301-52028302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551651929	chr8:52028314-52028315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569901855	chr8:52028322-52028323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536794832	chr8:52028343-52028344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555033778	chr8:52028351-52028352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145024914	chr8:52028360-52028361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534274753	chr8:52028374-52028375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73583865	chr8:52028380-52028381	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577825658	chr8:52028388-52028389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373862666	chr8:52028393-52028394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545270879	chr8:52028440-52028441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563500786	chr8:52028475-52028476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535202816	chr8:52028476-52028477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377699739	chr8:52028492-52028493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369592240	chr8:52028502-52028503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2045250	chr8:52028533-52028534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs578193522	chr8:52028536-52028537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555520399	chr8:52028537-52028538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10099685	chr8:52028559-52028560	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529308706	chr8:52028566-52028567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189805892	chr8:52028638-52028639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560013630	chr8:52028655-52028656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376509688	chr8:52028658-52028659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533491821	chr8:52028666-52028667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138800207	chr8:52028697-52028698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142073136	chr8:52028724-52028725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78041408	chr8:52028752-52028753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548669102	chr8:52028762-52028763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52027600-52027800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr8:52028000-52029200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:52028200-52029400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:52029200-52030200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr8:52030200-52035000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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