Variant report

Variant	esv3336359
Chromosome Location	chr1:103511764-103515662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534613567	chr1:103511792-103511793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546606270	chr1:103511794-103511795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369286697	chr1:103511804-103511805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12048863	chr1:103511815-103511816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538744491	chr1:103511826-103511827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370609823	chr1:103511833-103511834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374128976	chr1:103511834-103511835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71094596	chr1:103511835-103511836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557063195	chr1:103511862-103511863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575909940	chr1:103511878-103511879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536799001	chr1:103511913-103511914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61816508	chr1:103511921-103511922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555189582	chr1:103511953-103511954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61816509	chr1:103511971-103511972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573528225	chr1:103511991-103511992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540547711	chr1:103511993-103511994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192263840	chr1:103512003-103512004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577128896	chr1:103512044-103512045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544305173	chr1:103512047-103512048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111481597	chr1:103512243-103512244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562603437	chr1:103512280-103512281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540019222	chr1:103512315-103512316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531226452	chr1:103512334-103512335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530125266	chr1:103512342-103512343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548812852	chr1:103512375-103512376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560730541	chr1:103512443-103512444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528423477	chr1:103512462-103512463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546544805	chr1:103512464-103512465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571242089	chr1:103512479-103512480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138972951	chr1:103512527-103512528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532299120	chr1:103512539-103512540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185063231	chr1:103512572-103512573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569012051	chr1:103512575-103512576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4300244	chr1:103512595-103512596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188682748	chr1:103512598-103512599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181108881	chr1:103512624-103512625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534522760	chr1:103512663-103512664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184591950	chr1:103512667-103512668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12127576	chr1:103512687-103512688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs114025168	chr1:103512720-103512721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556136158	chr1:103512721-103512722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548720924	chr1:103512725-103512726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541908269	chr1:103512726-103512727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188960681	chr1:103512729-103512730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528248081	chr1:103512732-103512733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182492925	chr1:103512772-103512773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138938815	chr1:103512817-103512818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532423869	chr1:103512858-103512859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550640252	chr1:103512886-103512887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568847800	chr1:103512905-103512906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:103460200-103516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:103475800-103516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:103489200-103516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:103504600-103517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:103505200-103517200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:103510400-103516400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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