Variant report

Variant	esv3330551
Chromosome Location	chr10:56381596-56383544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370710027	chr10:56381608-56381609	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572612455	chr10:56381617-56381618	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147540100	chr10:56381625-56381626	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7073270	chr10:56381650-56381651	Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533090131	chr10:56381693-56381694	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576384276	chr10:56381698-56381699	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115864393	chr10:56381720-56381721	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187173158	chr10:56381728-56381729	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550287278	chr10:56381742-56381743	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7073524	chr10:56381757-56381758	Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568614345	chr10:56381762-56381763	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548655992	chr10:56381789-56381790	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565974105	chr10:56381796-56381797	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571739358	chr10:56381807-56381808	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113949658	chr10:56381838-56381839	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551598492	chr10:56381839-56381840	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151203924	chr10:56381840-56381841	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs66463722	chr10:56381841-56381842	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386743990	chr10:56381842-56381843	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374294385	chr10:56381843-56381844	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73249292	chr10:56381874-56381875	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539576968	chr10:56381915-56381916	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556252750	chr10:56381921-56381922	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75760611	chr10:56381926-56381927	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12244508	chr10:56381928-56381929	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535854325	chr10:56381936-56381937	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192101114	chr10:56381972-56381973	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74429838	chr10:56382000-56382001	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529390169	chr10:56382012-56382013	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572747914	chr10:56382056-56382057	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs80146214	chr10:56382124-56382125	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs7902216	chr10:56382153-56382154	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs578227297	chr10:56382158-56382159	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544005078	chr10:56382170-56382171	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183581880	chr10:56382263-56382264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563376462	chr10:56382265-56382266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114913415	chr10:56382266-56382267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533531938	chr10:56382323-56382324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183931252	chr10:56382331-56382332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57549679	chr10:56382352-56382353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57100654	chr10:56382359-56382360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111796051	chr10:56382383-56382384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199884856	chr10:56382408-56382409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1937399	chr10:56382414-56382415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537723924	chr10:56382426-56382427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528413487	chr10:56382431-56382432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189806944	chr10:56382434-56382435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182461392	chr10:56382443-56382444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12573781	chr10:56382445-56382446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567269501	chr10:56382457-56382458	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Melanoma	17363583	CNVD
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56381200-56382200	Flanking Active TSS	HUVEC	blood vessel
2	chr10:56381400-56381800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:56381400-56381800	Active TSS	Primary hematopoietic stem cells	blood
4	chr10:56381400-56381800	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr10:56381400-56381800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:56381400-56382000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:56381600-56382200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr10:56381800-56382000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr10:56381800-56382000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:56381800-56382200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:56382000-56382200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:56382200-56383000	Enhancers	HUVEC	blood vessel

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