Variant report

Variant	esv3330120
Chromosome Location	chr15:87681348-87690946
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	chr15:87677782..87683862-chr15:87687780..87692291,5	MCF-7	breast:
2	chr15:87677782..87683862-chr15:87687780..87692291,5	MCF-7	breast:

Extended variants
information (count: 328 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8031006	chr15:87681379-87681380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575625709	chr15:87681389-87681390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536992525	chr15:87681423-87681424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187506349	chr15:87681426-87681427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191439697	chr15:87681485-87681486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541234846	chr15:87681533-87681534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75544412	chr15:87681589-87681590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75920044	chr15:87681596-87681597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545131136	chr15:87681600-87681601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34939207	chr15:87681630-87681631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563742677	chr15:87681632-87681633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201410916	chr15:87681638-87681639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113172114	chr15:87681664-87681665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1353884	chr15:87681680-87681681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549733123	chr15:87681756-87681757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1909543	chr15:87681818-87681819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528765469	chr15:87681832-87681833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183710146	chr15:87681857-87681858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78625529	chr15:87681912-87681913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560293205	chr15:87681921-87681922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28703689	chr15:87681929-87681930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185518607	chr15:87681938-87681939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532301577	chr15:87681950-87681951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527748618	chr15:87681951-87681952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553564474	chr15:87681960-87681961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536636437	chr15:87681974-87681975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542775463	chr15:87682007-87682008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139555712	chr15:87682008-87682009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567246698	chr15:87682020-87682021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190421038	chr15:87682035-87682036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149749758	chr15:87682066-87682067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375792621	chr15:87682078-87682079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545530507	chr15:87682109-87682110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182252575	chr15:87682115-87682116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4547304	chr15:87682160-87682161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543064334	chr15:87682173-87682174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561218129	chr15:87682184-87682185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528802253	chr15:87682203-87682204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540559599	chr15:87682211-87682212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550489940	chr15:87682213-87682214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565518842	chr15:87682235-87682236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532578901	chr15:87682240-87682241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569102908	chr15:87682248-87682249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146766733	chr15:87682270-87682271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569430301	chr15:87682281-87682282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377342067	chr15:87682292-87682293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530010724	chr15:87682301-87682302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530495341	chr15:87682302-87682303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144503312	chr15:87682309-87682310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186918234	chr15:87682317-87682318	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
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	17237825	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87667800-87684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:87684000-87684400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:87684400-87685400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:87685400-87686000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:87686000-87686200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:87687600-87689000	Enhancers	NH-A	brain
7	chr15:87687800-87688600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:87688200-87689400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:87688600-87689600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:87689600-87689800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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