Variant report

Variant	esv3435989
Chromosome Location	chr1:71111864-71114512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71113661..71115986-chr1:71510232..71513062,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTGER3-2	chr1:71114347-71114581	XLOC_000868

Extended variants
information (count: 124 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561380473	chr1:71111934-71111935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529726241	chr1:71111953-71111954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28415396	chr1:71111969-71111970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563402951	chr1:71112007-71112008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530588346	chr1:71112017-71112018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377509013	chr1:71112057-71112058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543922510	chr1:71112058-71112059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186216401	chr1:71112061-71112062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563613248	chr1:71112067-71112068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565865692	chr1:71112068-71112069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528228229	chr1:71112096-71112097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11209665	chr1:71112126-71112127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376313652	chr1:71112160-71112161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4421542	chr1:71112167-71112168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs148134382	chr1:71112178-71112179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569854819	chr1:71112184-71112185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71758200	chr1:71112205-71112206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200323488	chr1:71112218-71112219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201457947	chr1:71112219-71112220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202073020	chr1:71112220-71112221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376092274	chr1:71112258-71112259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58510070	chr1:71112259-71112260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370230936	chr1:71112272-71112273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200135134	chr1:71112273-71112274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191967946	chr1:71112274-71112275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397751198	chr1:71112275-71112276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374458353	chr1:71112276-71112277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34190672	chr1:71112277-71112278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12126173	chr1:71112287-71112288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572608583	chr1:71112298-71112299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181845272	chr1:71112333-71112334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12144956	chr1:71112362-71112363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12144957	chr1:71112396-71112397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34785872	chr1:71112398-71112399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371407485	chr1:71112399-71112400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186036779	chr1:71112418-71112419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145686093	chr1:71112419-71112420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111154295	chr1:71112450-71112451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111070217	chr1:71112557-71112558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111070196	chr1:71112562-71112563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150904690	chr1:71112565-71112566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139380707	chr1:71112599-71112600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149617640	chr1:71112633-71112634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28971040	chr1:71112645-71112646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28970687	chr1:71112654-71112655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28971106	chr1:71112661-71112662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199673399	chr1:71112735-71112736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200790744	chr1:71112769-71112770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62645161	chr1:71112815-71112816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199948534	chr1:71112823-71112824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
small cell lung cancer	20016488	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
Esophageal cancer	21851588	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
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71111600-71115400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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