Variant report

Variant	nsv518418
Chromosome Location	chr15:54754185-54779312
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	chr15:54777517..54778098-chr15:55488919..55489423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137876	chromatin interactions

Extended variants
information (count: 687 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2414308	chr15:54754185-54754186	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528842533	chr15:54754203-54754204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79546516	chr15:54754213-54754214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552528000	chr15:54754250-54754251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568883405	chr15:54754258-54754259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572635240	chr15:54754281-54754282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78020682	chr15:54754300-54754301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189026890	chr15:54754311-54754312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192329165	chr15:54754333-54754334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183974733	chr15:54754359-54754360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145279351	chr15:54754376-54754377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559865821	chr15:54754392-54754393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370785933	chr15:54754420-54754421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567853279	chr15:54754429-54754430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116341190	chr15:54754462-54754463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556260294	chr15:54754464-54754465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373599607	chr15:54754497-54754498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188702608	chr15:54754510-54754511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545480912	chr15:54754512-54754513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546347450	chr15:54754530-54754531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367778020	chr15:54754533-54754534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180736879	chr15:54754537-54754538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs8030561	chr15:54754538-54754539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540438786	chr15:54754637-54754638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149159364	chr15:54754673-54754674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12592236	chr15:54754681-54754682	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542936677	chr15:54754691-54754692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562328573	chr15:54754694-54754695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531353578	chr15:54754695-54754696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144664881	chr15:54754703-54754704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34520766	chr15:54754718-54754719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571017124	chr15:54754753-54754754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62010141	chr15:54754764-54754765	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147873872	chr15:54754765-54754766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186039316	chr15:54754771-54754772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62010142	chr15:54754808-54754809	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556829835	chr15:54754817-54754818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367948177	chr15:54754819-54754820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539041468	chr15:54754820-54754821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559054131	chr15:54754829-54754830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572565580	chr15:54754847-54754848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541586054	chr15:54754873-54754874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553664961	chr15:54754881-54754882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573815003	chr15:54754906-54754907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147010793	chr15:54754915-54754916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562803686	chr15:54754920-54754921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372175018	chr15:54754924-54754925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111681419	chr15:54754933-54754934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28803267	chr15:54754937-54754938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368756192	chr15:54754947-54754948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54754000-54754200	ZNF genes & repeats	Fetal Lung	lung
2	chr15:54754200-54757200	Weak transcription	Fetal Lung	lung
3	chr15:54754600-54755200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:54754800-54755200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:54767600-54767800	Weak transcription	Aorta	Aorta
6	chr15:54769200-54777600	Weak transcription	Aorta	Aorta
7	chr15:54773400-54774200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:54774200-54775000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr15:54774400-54774800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:54774400-54775000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr15:54774600-54775000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:54774600-54775000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr15:54775200-54794000	Weak transcription	Fetal Lung	lung
14	chr15:54777600-54777800	ZNF genes & repeats	Aorta	Aorta
15	chr15:54777800-54810400	Weak transcription	Aorta	Aorta

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