Variant report

Variant	nsv569451
Chromosome Location	chr15:54010744-54022878
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	chr15:53057943..53058467-chr15:54010298..54010948,2	MCF-7	breast:

Extended variants
information (count: 209 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs990227	chr15:54010744-54010745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs689832	chr15:54010764-54010765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12913718	chr15:54010770-54010771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17663264	chr15:54010812-54010813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148848978	chr15:54010848-54010849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57539874	chr15:54010860-54010861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1711021	chr15:54010884-54010885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537484552	chr15:54010904-54010905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562869592	chr15:54010920-54010921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143770132	chr15:54010921-54010922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529390957	chr15:54010922-54010923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59997617	chr15:54010928-54010929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191026807	chr15:54010943-54010944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28374227	chr15:54010967-54010968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369153337	chr15:54010974-54010975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551500815	chr15:54010978-54010979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8037530	chr15:54010979-54010980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375358907	chr15:54010984-54010985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376956006	chr15:54010985-54010986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370340915	chr15:54010987-54010988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184159555	chr15:54010992-54010993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373786685	chr15:54010994-54010995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539403189	chr15:54011006-54011007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535549423	chr15:54011012-54011013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58570472	chr15:54011032-54011033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71655032	chr15:54011040-54011041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113208823	chr15:54011044-54011045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1675619	chr15:54011060-54011061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548159239	chr15:54011083-54011084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62007997	chr15:54011110-54011111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34206564	chr15:54011125-54011126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536862391	chr15:54011151-54011152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148402993	chr15:54011163-54011164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8036785	chr15:54011191-54011192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537805147	chr15:54011199-54011200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557470341	chr15:54011286-54011287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186682550	chr15:54011297-54011298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150908564	chr15:54011327-54011328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562578758	chr15:54011338-54011339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59096456	chr15:54011437-54011438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553683899	chr15:54011442-54011443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191937831	chr15:54011446-54011447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369338041	chr15:54011470-54011471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182853599	chr15:54011495-54011496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373137620	chr15:54011551-54011552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79265615	chr15:54011561-54011562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541567033	chr15:54011579-54011580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144482788	chr15:54011587-54011588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545340834	chr15:54011590-54011591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565133492	chr15:54011656-54011657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54009200-54014600	Weak transcription	HepG2	liver
2	chr15:54010000-54011400	Weak transcription	Liver	Liver
3	chr15:54011400-54012000	Enhancers	Liver	Liver
4	chr15:54012000-54012600	Weak transcription	Liver	Liver
5	chr15:54012600-54013000	Enhancers	Liver	Liver
6	chr15:54013000-54013600	Flanking Active TSS	Liver	Liver
7	chr15:54013000-54013600	Enhancers	Fetal Intestine Small	intestine
8	chr15:54013600-54014400	Active TSS	Liver	Liver
9	chr15:54014400-54014600	Flanking Active TSS	Liver	Liver
10	chr15:54014600-54015200	Enhancers	Liver	Liver
11	chr15:54014600-54015200	Enhancers	HepG2	liver
12	chr15:54015200-54015400	Weak transcription	HepG2	liver

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