Variant report

Variant	esv3357008
Chromosome Location	chr15:87679848-87687446
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:

Extended variants
information (count: 297 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:297 , 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	rs375532927	chr15:87679876-87679877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78150543	chr15:87679885-87679886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529321817	chr15:87679892-87679893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139330941	chr15:87679933-87679934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1392160	chr15:87679956-87679957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539782108	chr15:87679958-87679959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193178462	chr15:87679969-87679970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141742836	chr15:87679987-87679988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28560375	chr15:87680000-87680001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565033886	chr15:87680028-87680029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537634706	chr15:87680098-87680099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555961309	chr15:87680143-87680144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574605656	chr15:87680152-87680153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541899143	chr15:87680156-87680157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553811674	chr15:87680170-87680171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143026578	chr15:87680193-87680194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78807771	chr15:87680195-87680196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1499735	chr15:87680237-87680238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536585883	chr15:87680294-87680295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75977452	chr15:87680311-87680312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184620841	chr15:87680316-87680317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566518057	chr15:87680327-87680328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561502398	chr15:87680334-87680335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529359559	chr15:87680399-87680400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188593386	chr15:87680423-87680424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533862403	chr15:87680444-87680445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1499734	chr15:87680488-87680489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533336104	chr15:87680528-87680529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551820092	chr15:87680553-87680554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577319358	chr15:87680592-87680593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78018825	chr15:87680602-87680603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549600991	chr15:87680616-87680617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548265709	chr15:87680622-87680623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567819107	chr15:87680633-87680634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535591829	chr15:87680657-87680658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180682451	chr15:87680668-87680669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185259047	chr15:87680677-87680678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368593897	chr15:87680683-87680684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539436394	chr15:87680730-87680731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28584554	chr15:87680731-87680732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372399600	chr15:87680790-87680791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543275332	chr15:87680820-87680821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561591433	chr15:87680839-87680840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116355947	chr15:87680846-87680847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28454609	chr15:87680855-87680856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189291261	chr15:87680856-87680857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533232747	chr15:87680876-87680877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149585517	chr15:87680885-87680886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59045043	chr15:87680917-87680918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73452979	chr15:87680965-87680966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:5 , 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

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