Variant report

Variant	nsv974577
Chromosome Location	chr15:53176769-53183456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:53181650-53181672	GM20000	blood:	n/a	n/a
2	IRF1	chr15:53182027-53182062	K562	blood:	n/a	n/a
3	POLR2A	chr15:53182846-53183025	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr15:53180287-53180487	MCF10A-Er-Src	breast:	n/a	n/a
5	REST	chr15:53183138-53183558	MCF-7	breast:	n/a	chr15:53183332-53183341

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:245364623..245365523-chr15:53182428..53183156,2	MCF-7	breast:

Variant related genes	Relation type
RPSAP55	TF binding region

Extended variants
information (count: 274 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546221001	chr15:53176783-53176784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572347698	chr15:53176826-53176827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542825466	chr15:53176832-53176833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562932685	chr15:53176843-53176844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561294140	chr15:53176856-53176857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113787234	chr15:53176872-53176873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192237080	chr15:53176905-53176906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78409427	chr15:53176914-53176915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532398481	chr15:53176916-53176917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185196111	chr15:53177012-53177013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565989968	chr15:53177084-53177085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536504814	chr15:53177085-53177086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548427919	chr15:53177105-53177106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569717570	chr15:53177110-53177111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548379287	chr15:53177245-53177246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190566969	chr15:53177274-53177275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563548667	chr15:53177308-53177309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371442615	chr15:53177336-53177337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536409992	chr15:53177371-53177372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558349305	chr15:53177381-53177382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576821753	chr15:53177413-53177414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73413462	chr15:53177421-53177422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148827087	chr15:53177457-53177458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527575954	chr15:53177462-53177463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542876610	chr15:53177477-53177478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1899734	chr15:53177489-53177490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576537124	chr15:53177535-53177536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1899735	chr15:53177538-53177539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565224564	chr15:53177549-53177550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72742108	chr15:53177575-53177576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547815850	chr15:53177590-53177591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549380978	chr15:53177604-53177605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548785208	chr15:53177629-53177630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79561627	chr15:53177638-53177639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528177756	chr15:53177696-53177697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548488651	chr15:53177768-53177769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569861687	chr15:53177771-53177772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55657546	chr15:53177772-53177773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530617657	chr15:53177803-53177804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546409775	chr15:53177816-53177817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570465622	chr15:53177850-53177851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143419512	chr15:53177862-53177863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567203249	chr15:53177871-53177872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193243072	chr15:53177914-53177915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61745268	chr15:53177949-53177950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141899503	chr15:53177969-53177970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576625067	chr15:53177984-53177985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2414185	chr15:53178012-53178013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs56273809	chr15:53178069-53178070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138496742	chr15:53178078-53178079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21785460	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53165800-53183200	Weak transcription	Pancreas	Pancrea
2	chr15:53183200-53183600	Enhancers	Pancreas	Pancrea

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