Variant report

Variant	nsv527396
Chromosome Location	chr1:56269821-56280909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs116687128	chr1:56276604-56276605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554085835	chr1:56276605-56276606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561908257	chr1:56276636-56276637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527473120	chr1:56276700-56276701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377294036	chr1:56276769-56276770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564123328	chr1:56276791-56276792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113051869	chr1:56276819-56276820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142284389	chr1:56276830-56276831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569535962	chr1:56276866-56276867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372580756	chr1:56276890-56276891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529619777	chr1:56276906-56276907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549265301	chr1:56276922-56276923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181037439	chr1:56276963-56276964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183567277	chr1:56276993-56276994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534850542	chr1:56277059-56277060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151265633	chr1:56277112-56277113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140503953	chr1:56277116-56277117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116209991	chr1:56277159-56277160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527371655	chr1:56277168-56277169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376950292	chr1:56277255-56277256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557349923	chr1:56277328-56277329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115247842	chr1:56277440-56277441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181849661	chr1:56277448-56277449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150338164	chr1:56277481-56277482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17112845	chr1:56277524-56277525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs186103056	chr1:56277586-56277587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191961230	chr1:56277603-56277604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577702421	chr1:56277639-56277640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543129721	chr1:56277651-56277652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368575901	chr1:56277686-56277687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563343164	chr1:56277693-56277694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528875426	chr1:56277713-56277714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373906943	chr1:56277738-56277739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376610088	chr1:56277764-56277765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371374935	chr1:56277776-56277777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181518514	chr1:56277784-56277785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543900761	chr1:56277808-56277809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551592587	chr1:56277832-56277833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571724743	chr1:56277833-56277834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34584125	chr1:56277888-56277889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186705603	chr1:56277920-56277921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550785271	chr1:56277949-56277950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567661002	chr1:56277968-56277969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11805043	chr1:56277987-56277988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199844750	chr1:56277997-56277998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12037505	chr1:56277998-56277999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556814467	chr1:56278012-56278013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377350290	chr1:56278019-56278020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555720219	chr1:56278040-56278041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572334463	chr1:56278080-56278081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
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
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
Melanoma	17363583	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56276600-56280200	Enhancers	Hela-S3	cervix
2	chr1:56277400-56277600	Enhancers	Fetal Intestine Small	intestine
3	chr1:56277400-56278600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:56277400-56280000	Enhancers	NHDF-Ad	bronchial
5	chr1:56277400-56280200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:56277600-56277800	Enhancers	Fetal Intestine Large	intestine
7	chr1:56277600-56278200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:56277600-56279000	Enhancers	Ovary	ovary
9	chr1:56277600-56279800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:56277600-56279800	Enhancers	Osteobl	bone
11	chr1:56277600-56280000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:56277600-56280000	Enhancers	NHLF	lung
13	chr1:56277800-56278600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:56277800-56281000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:56278000-56278400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:56278000-56278400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:56278000-56278600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:56278000-56279000	Enhancers	Placenta	Placenta
19	chr1:56278000-56280000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:56278000-56280000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:56278200-56278400	Enhancers	Aorta	Aorta
22	chr1:56278200-56278400	Enhancers	Fetal Intestine Small	intestine
23	chr1:56278200-56278400	Enhancers	HSMMtube	muscle
24	chr1:56278200-56278600	Enhancers	Pancreas	Pancrea
25	chr1:56278200-56278600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:56278200-56279800	Enhancers	Adipose Nuclei	Adipose
27	chr1:56278200-56280400	Enhancers	Colon Smooth Muscle	Colon
28	chr1:56278400-56278800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:56278400-56279400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:56278400-56280400	Weak transcription	Aorta	Aorta
31	chr1:56278400-56282600	Weak transcription	Fetal Intestine Small	intestine
32	chr1:56278600-56278800	Enhancers	Right Atrium	heart
33	chr1:56278600-56279000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:56278600-56279000	Enhancers	Lung	lung
35	chr1:56278600-56279800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:56278600-56281600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:56278600-56282200	Weak transcription	Pancreas	Pancrea
38	chr1:56278800-56279400	Weak transcription	Right Atrium	heart
39	chr1:56278800-56280800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:56279000-56279400	Weak transcription	Placenta	Placenta
41	chr1:56279000-56279400	Weak transcription	Lung	lung
42	chr1:56279000-56279400	Weak transcription	Ovary	ovary
43	chr1:56279000-56279600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:56279200-56280200	Enhancers	Rectal Smooth Muscle	rectum
45	chr1:56279200-56282600	Enhancers	Liver	Liver
46	chr1:56279400-56279600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:56279400-56279600	Enhancers	Placenta	Placenta
48	chr1:56279400-56279600	Enhancers	Fetal Stomach	stomach
49	chr1:56279400-56279600	Enhancers	Left Ventricle	heart
50	chr1:56279400-56279600	Enhancers	Lung	lung

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