Variant report

Variant	esv3311763
Chromosome Location	chr15:45519492-45521407
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	chr15:45512789..45515700-chr15:45518992..45521212,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184735334	chr15:45519492-45519493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532972672	chr15:45519499-45519500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189504819	chr15:45519538-45519539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73413539	chr15:45519616-45519617	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113703107	chr15:45519676-45519677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567693658	chr15:45519690-45519691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149963389	chr15:45519699-45519700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181512352	chr15:45519719-45519720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145070728	chr15:45519760-45519761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534068407	chr15:45519791-45519792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186881609	chr15:45519798-45519799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369138472	chr15:45519814-45519815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375565217	chr15:45519886-45519887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74009603	chr15:45519914-45519915	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189779550	chr15:45519942-45519943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568680294	chr15:45519950-45519951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537774051	chr15:45519966-45519967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375500147	chr15:45520015-45520016	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61419597	chr15:45520023-45520024	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11070446	chr15:45520053-45520054	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12906537	chr15:45520061-45520062	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141412516	chr15:45520080-45520081	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553682012	chr15:45520108-45520109	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555593415	chr15:45520193-45520194	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576873672	chr15:45520197-45520198	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200030551	chr15:45520200-45520201	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12906734	chr15:45520240-45520241	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565501636	chr15:45520264-45520265	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531105746	chr15:45520296-45520297	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181429274	chr15:45520316-45520317	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141051179	chr15:45520404-45520405	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530157040	chr15:45520454-45520455	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546683573	chr15:45520515-45520516	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202071267	chr15:45520521-45520522	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568373483	chr15:45520534-45520535	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs66982097	chr15:45520538-45520539	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111667576	chr15:45520541-45520542	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200321764	chr15:45520542-45520543	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150223197	chr15:45520544-45520545	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74614008	chr15:45520547-45520548	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74333148	chr15:45520548-45520549	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs66982098	chr15:45520549-45520550	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12911281	chr15:45520550-45520551	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374135678	chr15:45520553-45520554	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147159920	chr15:45520554-45520555	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111942561	chr15:45520586-45520587	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559776437	chr15:45520606-45520607	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537639693	chr15:45520608-45520609	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548124115	chr15:45520613-45520614	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185615	chr15:45520652-45520653	Weak transcription ZNF genes & repeats Enhancers	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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45514600-45526800	Weak transcription	Gastric	stomach
2	chr15:45516000-45522600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:45517600-45525200	Weak transcription	Pancreas	Pancrea
4	chr15:45517800-45521000	Weak transcription	Small Intestine	intestine
5	chr15:45518200-45519600	Weak transcription	Stomach Mucosa	stomach
6	chr15:45518200-45520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:45518200-45521000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:45518200-45521000	Weak transcription	Fetal Intestine Large	intestine
9	chr15:45519600-45523800	Enhancers	Stomach Mucosa	stomach
10	chr15:45520000-45521400	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr15:45521000-45521200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:45521000-45523200	Enhancers	Small Intestine	intestine
13	chr15:45521000-45523800	Enhancers	Fetal Intestine Large	intestine
14	chr15:45521000-45524000	Enhancers	Duodenum Mucosa	Duodenum
15	chr15:45521400-45521600	Enhancers	Fetal Heart	heart
16	chr15:45521400-45523600	Enhancers	Fetal Intestine Small	intestine

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