Variant report

Variant	esv2762155
Chromosome Location	chr1:75717968-75723151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs536924209	chr1:75717988-75717989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559436722	chr1:75717999-75718000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142869641	chr1:75718027-75718028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113842177	chr1:75718066-75718067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186133851	chr1:75718090-75718091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374995839	chr1:75718181-75718182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534155705	chr1:75718186-75718187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558682917	chr1:75718192-75718193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577264826	chr1:75718193-75718194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189670501	chr1:75718224-75718225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528268634	chr1:75718264-75718265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556719205	chr1:75718268-75718269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs638302	chr1:75718283-75718284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs664593	chr1:75718310-75718311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs561200971	chr1:75718330-75718331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528381015	chr1:75718347-75718348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528669205	chr1:75718357-75718358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147414305	chr1:75718436-75718437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529590454	chr1:75718440-75718441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114485971	chr1:75718452-75718453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116531555	chr1:75718510-75718511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113267599	chr1:75718514-75718515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115916832	chr1:75718531-75718532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374657423	chr1:75718542-75718543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114342730	chr1:75718593-75718594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548811393	chr1:75718678-75718679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113537472	chr1:75718714-75718715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143915147	chr1:75718801-75718802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534269983	chr1:75718849-75718850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558900804	chr1:75718899-75718900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570790713	chr1:75718931-75718932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1768544	chr1:75719001-75719002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs74889673	chr1:75719003-75719004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574606983	chr1:75719044-75719045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150630210	chr1:75719067-75719068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183267471	chr1:75719080-75719081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573085411	chr1:75719081-75719082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369982663	chr1:75719102-75719103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540194611	chr1:75719104-75719105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146790276	chr1:75719127-75719128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550532380	chr1:75719196-75719197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564878783	chr1:75719204-75719205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534478262	chr1:75719230-75719231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187539506	chr1:75719248-75719249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139766756	chr1:75719270-75719271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562530653	chr1:75719353-75719354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190572593	chr1:75719473-75719474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149362925	chr1:75719475-75719476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566993688	chr1:75719501-75719502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527970399	chr1:75719517-75719518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75711800-75718800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:75716400-75723800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:75718400-75720400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:75720400-75726200	Weak transcription	Primary B cells from peripheral blood	blood

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