Variant report

Variant	nsv945994
Chromosome Location	chr1:70996237-71002462
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	chr1:70994251..70996830-chr1:71512472..71514167,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-11	chr1:70999495-70999544	l_70_chr1:70941940-70999544_kidney
2	lnc-CTH-11	chr1:70998661-70998739	l_70_chr1:70941940-70999544_kidney
3	lnc-CTH-10	chr1:70996209-70997175	NONHSAT003861

Variant related genes	Relation type
ENSG00000050628	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74085288	chr1:70996263-70996264	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564986870	chr1:70996268-70996269	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs527658811	chr1:70996269-70996270	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs541163374	chr1:70996287-70996288	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs561065974	chr1:70996292-70996293	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs530184071	chr1:70996392-70996393	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs149699485	chr1:70996414-70996415	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs373555633	chr1:70996427-70996428	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs570188994	chr1:70996437-70996438	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs145525657	chr1:70996451-70996452	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs552899413	chr1:70996472-70996473	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs565706152	chr1:70996476-70996477	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs534583203	chr1:70996512-70996513	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs61625467	chr1:70996552-70996553	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186890459	chr1:70996558-70996559	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs34014461	chr1:70996572-70996573	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs537109216	chr1:70996635-70996636	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs35629171	chr1:70996637-70996638	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs556917053	chr1:70996653-70996654	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs576966768	chr1:70996695-70996696	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs2807905	chr1:70996698-70996699	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552834644	chr1:70996700-70996701	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs528475892	chr1:70996726-70996727	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs192196928	chr1:70996742-70996743	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs142622667	chr1:70996764-70996765	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs370967980	chr1:70996766-70996767	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs560903664	chr1:70996812-70996813	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs530144011	chr1:70996830-70996831	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs543887247	chr1:70996843-70996844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs115504947	chr1:70996914-70996915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs146473063	chr1:70996938-70996939	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs116785594	chr1:70996969-70996970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs2133913	chr1:70996994-70996995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs184444003	chr1:70997020-70997021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs528767175	chr1:70997039-70997040	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs548217679	chr1:70997063-70997064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs141163468	chr1:70997073-70997074	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs536794238	chr1:70997103-70997104	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs556998010	chr1:70997105-70997106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368254369	chr1:70997119-70997120	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs539265632	chr1:70997126-70997127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs112583109	chr1:70997127-70997128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs505292	chr1:70997152-70997153	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572806131	chr1:70997168-70997169	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs570856766	chr1:70998713-70998714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs368555489	chr1:70999506-70999507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs553377118	chr1:70999529-70999530	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs566976808	chr1:70999531-70999532	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs116795645	chr1:71002403-71002404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72451889	chr1:71002415-71002416	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71002400-71003000	Enhancers	Fetal Heart	heart

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