Variant report

Variant	esv3451773
Chromosome Location	chr1:104944829-104947927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12046253	chr1:104944842-104944843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372564142	chr1:104944846-104944847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7538850	chr1:104944850-104944851	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6605226	chr1:104944872-104944873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373181350	chr1:104944882-104944883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148949593	chr1:104944890-104944891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377450980	chr1:104944892-104944893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs315153	chr1:104944970-104944971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374137053	chr1:104945015-104945016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77745058	chr1:104945034-104945035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574122048	chr1:104945035-104945036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10881154	chr1:104945065-104945066	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115685278	chr1:104945071-104945072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6677388	chr1:104945075-104945076	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76101238	chr1:104945098-104945099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34361306	chr1:104945115-104945116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113898226	chr1:104945120-104945121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113514825	chr1:104945127-104945128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146811235	chr1:104945147-104945148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77044448	chr1:104945202-104945203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561131717	chr1:104945207-104945208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561055869	chr1:104945230-104945231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528301579	chr1:104945241-104945242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377553985	chr1:104945268-104945269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546672361	chr1:104945277-104945278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142202097	chr1:104945285-104945286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11588534	chr1:104945287-104945288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550514244	chr1:104945292-104945293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546819366	chr1:104945348-104945349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571512675	chr1:104945349-104945350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10881155	chr1:104945357-104945358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181433940	chr1:104945450-104945451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575541419	chr1:104945460-104945461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569926694	chr1:104945486-104945487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537472019	chr1:104945502-104945503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544541964	chr1:104945548-104945549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148883397	chr1:104945554-104945555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527632532	chr1:104945617-104945618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115610897	chr1:104945682-104945683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374290082	chr1:104945743-104945744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536943832	chr1:104945761-104945762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114335306	chr1:104945812-104945813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538927221	chr1:104945843-104945844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113992920	chr1:104945855-104945856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550607686	chr1:104945883-104945884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575097324	chr1:104945898-104945899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547890706	chr1:104945905-104945906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11184156	chr1:104945929-104945930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186083070	chr1:104945965-104945966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143548215	chr1:104945966-104945967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104941000-104948800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:104943800-104945400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:104944400-104945200	Enhancers	Brain Germinal Matrix	brain
4	chr1:104944800-104945200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:104945200-104946000	Weak transcription	Brain Germinal Matrix	brain
6	chr1:104945400-104948800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:104946000-104946200	Enhancers	Brain Germinal Matrix	brain

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