Variant report

Variant	nsv946065
Chromosome Location	chr1:90752199-90763787
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	chr1:90597415..90598077-chr1:90752036..90752920,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BARHL2-2	chr1:90752760-90752820	XLOC_000913
2	lnc-BARHL2-2	chr1:90762498-90763021	XLOC_000913

Extended variants
information (count: 344 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576101284	chr1:90752228-90752229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542638576	chr1:90752247-90752248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560910731	chr1:90752260-90752261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150497170	chr1:90752262-90752263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12057454	chr1:90752265-90752266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184388004	chr1:90752275-90752276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139822724	chr1:90752314-90752315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143230117	chr1:90752348-90752349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547590400	chr1:90752378-90752379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566425393	chr1:90752437-90752438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs118163335	chr1:90752452-90752453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146704807	chr1:90752573-90752574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115430303	chr1:90752613-90752614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538541041	chr1:90752646-90752647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556885878	chr1:90752658-90752659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578236511	chr1:90752672-90752673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114408760	chr1:90752746-90752747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554274475	chr1:90752832-90752833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139281146	chr1:90752834-90752835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543077533	chr1:90752836-90752837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529970047	chr1:90752865-90752866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549654839	chr1:90752960-90752961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554543879	chr1:90753151-90753152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568957515	chr1:90753174-90753175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149943937	chr1:90753187-90753188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188776500	chr1:90753188-90753189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562441842	chr1:90753193-90753194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538241730	chr1:90753206-90753207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181884822	chr1:90753270-90753271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145083862	chr1:90753326-90753327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185854721	chr1:90753372-90753373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560261277	chr1:90753408-90753409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149101868	chr1:90753435-90753436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114960621	chr1:90753452-90753453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143188520	chr1:90753482-90753483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190326790	chr1:90753502-90753503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550523087	chr1:90753514-90753515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369322874	chr1:90753544-90753545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571729695	chr1:90753561-90753562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12060187	chr1:90753594-90753595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539283735	chr1:90753617-90753618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554091591	chr1:90753662-90753663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566215559	chr1:90753730-90753731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142350604	chr1:90753747-90753748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554436580	chr1:90753760-90753761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554637712	chr1:90753813-90753814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181011377	chr1:90753818-90753819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543393069	chr1:90753849-90753850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185843552	chr1:90753856-90753857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146522294	chr1:90753925-90753926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90748400-90753000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:90752000-90752200	Enhancers	Aorta	Aorta
3	chr1:90753000-90753600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:90753600-90756400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:90756400-90758200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:90756600-90757000	Enhancers	Fetal Muscle Leg	muscle
7	chr1:90756600-90758000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:90758200-90761200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:90760800-90761400	Enhancers	Dnd41	blood
10	chr1:90761200-90761800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:90761800-90762200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links