Variant report

Variant	esv3348063
Chromosome Location	chr15:87685948-87690946
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:

Extended variants
information (count: 106 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140007159	chr15:87685988-87685989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145945822	chr15:87685996-87685997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2347975	chr15:87686029-87686030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs193299833	chr15:87686055-87686056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182858492	chr15:87686059-87686060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114165852	chr15:87686073-87686074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187490076	chr15:87686075-87686076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547770828	chr15:87686087-87686088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559449979	chr15:87686121-87686122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4887262	chr15:87686133-87686134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531340698	chr15:87686144-87686145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191596030	chr15:87686160-87686161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188954803	chr15:87687650-87687651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578021494	chr15:87687694-87687695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576309613	chr15:87687696-87687697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76799710	chr15:87687740-87687741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117228413	chr15:87687759-87687760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564914190	chr15:87687783-87687784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7177999	chr15:87687819-87687820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543339087	chr15:87687834-87687835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371132321	chr15:87687838-87687839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528661769	chr15:87687888-87687889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181655339	chr15:87687907-87687908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185547321	chr15:87687912-87687913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532815890	chr15:87687930-87687931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550969748	chr15:87687989-87687990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541565336	chr15:87688008-87688009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77308357	chr15:87688012-87688013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147919899	chr15:87688015-87688016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548988130	chr15:87688033-87688034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191434694	chr15:87688040-87688041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368557509	chr15:87688053-87688054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141863696	chr15:87688060-87688061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147107381	chr15:87688103-87688104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539095364	chr15:87688113-87688114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201624106	chr15:87688125-87688126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533275065	chr15:87688144-87688145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557436698	chr15:87688167-87688168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7180677	chr15:87688179-87688180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545733157	chr15:87688203-87688204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543340428	chr15:87688259-87688260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561437903	chr15:87688308-87688309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12323974	chr15:87688321-87688322	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540470004	chr15:87688357-87688358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565435597	chr15:87688428-87688429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12324067	chr15:87688475-87688476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs16939935	chr15:87688498-87688499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74829598	chr15:87688575-87688576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180845296	chr15:87688577-87688578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58765219	chr15:87688605-87688606	Weak transcription Enhancers	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87685400-87686000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:87686000-87686200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:87687600-87689000	Enhancers	NH-A	brain
4	chr15:87687800-87688600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:87688200-87689400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:87688600-87689600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:87689600-87689800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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