Variant report

Variant	nsv983757
Chromosome Location	chr13:55070017-55082057
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	chr13:55057860..55060110-chr13:55070422..55072564,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78621582	chr13:55072031-55072032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537639132	chr13:55072033-55072034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35713570	chr13:55072061-55072062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369294435	chr13:55072102-55072103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557302856	chr13:55072139-55072140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372401959	chr13:55072156-55072157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183134373	chr13:55072168-55072169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546540233	chr13:55072170-55072171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574493067	chr13:55072193-55072194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2096111	chr13:55072221-55072222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541515663	chr13:55072232-55072233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534270772	chr13:55072314-55072315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561820187	chr13:55072333-55072334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11842836	chr13:55072364-55072365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149585230	chr13:55072379-55072380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117292321	chr13:55072505-55072506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577000982	chr13:55072519-55072520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563969928	chr13:55072540-55072541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533032609	chr13:55072580-55072581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116740119	chr13:55072589-55072590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188219566	chr13:55072600-55072601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35542202	chr13:55072622-55072623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374082049	chr13:55072623-55072624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140662172	chr13:55072624-55072625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535012051	chr13:55072630-55072631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559498042	chr13:55072677-55072678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548332436	chr13:55072681-55072682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117645414	chr13:55072707-55072708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148298653	chr13:55072710-55072711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192992014	chr13:55072725-55072726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557560776	chr13:55072739-55072740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577528429	chr13:55072761-55072762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540096409	chr13:55072781-55072782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377593664	chr13:55072802-55072803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77406367	chr13:55072815-55072816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573627589	chr13:55072816-55072817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558290066	chr13:55072877-55072878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541800535	chr13:55072882-55072883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1112288	chr13:55072913-55072914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142291464	chr13:55072966-55072967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543999813	chr13:55073009-55073010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112972719	chr13:55073027-55073028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1807797	chr13:55073057-55073058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540082783	chr13:55073090-55073091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560004107	chr13:55073153-55073154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9596992	chr13:55073159-55073160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146396408	chr13:55073168-55073169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369094158	chr13:55073172-55073173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530999169	chr13:55073209-55073210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549730700	chr13:55073217-55073218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55072000-55075200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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