Variant report

Variant	esv3449152
Chromosome Location	chr1:72689564-72693162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556906543	chr1:72689579-72689580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188480517	chr1:72689617-72689618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572471846	chr1:72689634-72689635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151297458	chr1:72689647-72689648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542767471	chr1:72689656-72689657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545733492	chr1:72689657-72689658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75688669	chr1:72689696-72689697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572511032	chr1:72689724-72689725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541421949	chr1:72689824-72689825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201048040	chr1:72689883-72689884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71894823	chr1:72689884-72689885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183010826	chr1:72689886-72689887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369286061	chr1:72689974-72689975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529451368	chr1:72689996-72689997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58508161	chr1:72690008-72690009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185055751	chr1:72690009-72690010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377184404	chr1:72690010-72690011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181337623	chr1:72690135-72690136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530547066	chr1:72690185-72690186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569916946	chr1:72690186-72690187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563910805	chr1:72690187-72690188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532747864	chr1:72690265-72690266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552907506	chr1:72690266-72690267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566336031	chr1:72690270-72690271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535032611	chr1:72690298-72690299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548260292	chr1:72690312-72690313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202096470	chr1:72690367-72690368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372486804	chr1:72690371-72690372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559883740	chr1:72690516-72690517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565218117	chr1:72690551-72690552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532855851	chr1:72690553-72690554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528723035	chr1:72690559-72690560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140680268	chr1:72690576-72690577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74970103	chr1:72690592-72690593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144659850	chr1:72690598-72690599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186510593	chr1:72690626-72690627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565530158	chr1:72690652-72690653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566182305	chr1:72690812-72690813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531237265	chr1:72690839-72690840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190966471	chr1:72690897-72690898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78228423	chr1:72690912-72690913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12093750	chr1:72690987-72690988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561560477	chr1:72691048-72691049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575165241	chr1:72691059-72691060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544019421	chr1:72691062-72691063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564123579	chr1:72691087-72691088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570019285	chr1:72691093-72691094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180976318	chr1:72691095-72691096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115159813	chr1:72691140-72691141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547640728	chr1:72691150-72691151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72681800-72691600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:72691400-72692200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:72691600-72692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:72691600-72692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:72692200-72698800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:72692800-72693600	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:72693000-72694000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:72693000-72694000	Enhancers	Aorta	Aorta
9	chr1:72693000-72694000	Enhancers	Fetal Stomach	stomach
10	chr1:72693000-72694400	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links