Variant report

Variant	esv3419874
Chromosome Location	chr1:103638214-103639362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 101 )

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	rs76461124	chr1:103638214-103638215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539642153	chr1:103638293-103638294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12063499	chr1:103638297-103638298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564909306	chr1:103638309-103638310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576720460	chr1:103638312-103638313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186101423	chr1:103638339-103638340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72991550	chr1:103638351-103638352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530265414	chr1:103638445-103638446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72687249	chr1:103638458-103638459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554998082	chr1:103638501-103638502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190908899	chr1:103638532-103638533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573080655	chr1:103638556-103638557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182327345	chr1:103638559-103638560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111265805	chr1:103638565-103638566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186933152	chr1:103638582-103638583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191734517	chr1:103638604-103638605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547412645	chr1:103638617-103638618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370440677	chr1:103638618-103638619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375199218	chr1:103638620-103638621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372123981	chr1:103638629-103638630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375449538	chr1:103638635-103638636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368500022	chr1:103638638-103638639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372147370	chr1:103638642-103638643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376836915	chr1:103638648-103638649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368902464	chr1:103638651-103638652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372613572	chr1:103638664-103638665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374787725	chr1:103638666-103638667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369131925	chr1:103638667-103638668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373381547	chr1:103638676-103638677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376642850	chr1:103638681-103638682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371350770	chr1:103638689-103638690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377754314	chr1:103638695-103638696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374737341	chr1:103638708-103638709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373747391	chr1:103638709-103638710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370375686	chr1:103638711-103638712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374755943	chr1:103638713-103638714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368348908	chr1:103638716-103638717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376738272	chr1:103638720-103638721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372570553	chr1:103638722-103638723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375364487	chr1:103638724-103638725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371586944	chr1:103638726-103638727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374566705	chr1:103638732-103638733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376376679	chr1:103638733-103638734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370152554	chr1:103638734-103638735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368562739	chr1:103638740-103638741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372279895	chr1:103638743-103638744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112452841	chr1:103638747-103638748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374665120	chr1:103638750-103638751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368954685	chr1:103638751-103638752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7517659	chr1:103638752-103638753	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103637200-103646000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:103637600-103641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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