Variant report

Variant	esv19673
Chromosome Location	chr10:45061889-45062742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570644707	chr10:45061896-45061897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112296007	chr10:45061914-45061915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372407850	chr10:45061915-45061916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34764171	chr10:45061921-45061922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386743291	chr10:45061922-45061923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34713942	chr10:45061923-45061924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117291140	chr10:45061939-45061940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535484965	chr10:45061992-45061993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144115630	chr10:45062004-45062005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187882684	chr10:45062044-45062045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545898412	chr10:45062059-45062060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146809740	chr10:45062063-45062064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576579376	chr10:45062067-45062068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543649159	chr10:45062087-45062088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11239135	chr10:45062092-45062093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529526551	chr10:45062093-45062094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193186133	chr10:45062109-45062110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145603910	chr10:45062138-45062139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374571076	chr10:45062161-45062162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200590089	chr10:45062170-45062171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs68187833	chr10:45062178-45062179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78995732	chr10:45062182-45062183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11239136	chr10:45062251-45062252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551865051	chr10:45062282-45062283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568039325	chr10:45062303-45062304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11239137	chr10:45062330-45062331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11239138	chr10:45062334-45062335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140635748	chr10:45062352-45062353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111666069	chr10:45062391-45062392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11239139	chr10:45062495-45062496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554072740	chr10:45062496-45062497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565689486	chr10:45062512-45062513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539016536	chr10:45062519-45062520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114014676	chr10:45062580-45062581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377448643	chr10:45062585-45062586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138154999	chr10:45062663-45062664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10900067	chr10:45062673-45062674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368018064	chr10:45062683-45062684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185124010	chr10:45062690-45062691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190815811	chr10:45062692-45062693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541343844	chr10:45062709-45062710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559580309	chr10:45062722-45062723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10900068	chr10:45062732-45062733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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
Lung cancer	18438408	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
Mental retardation	21062444	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45044600-45070200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:45059400-45062400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:45060600-45064800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:45062400-45063000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:45062400-45063200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:45062400-45065200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:45062600-45063400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:45062600-45064400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:45062600-45064400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:45062600-45064400	Enhancers	NH-A	brain
11	chr10:45062600-45064600	Enhancers	NHDF-Ad	bronchial
12	chr10:45062600-45064800	Enhancers	Osteobl	bone

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