Variant report

Variant	esv12490
Chromosome Location	chr15:87671272-87689759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:87662307..87663890-chr15:87676905..87678767,2	MCF-7	breast:
2	chr15:87664612..87666658-chr15:87671370..87673552,2	MCF-7	breast:
3	chr15:87677782..87683862-chr15:87687780..87692291,5	MCF-7	breast:
4	chr15:87677782..87683862-chr15:87687780..87692291,5	MCF-7	breast:
5	chr15:87666031..87668174-chr15:87674235..87675823,2	MCF-7	breast:

Extended variants
information (count: 768 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:768 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182849066	chr15:87671293-87671294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187491895	chr15:87671333-87671334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35591088	chr15:87671357-87671358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142428870	chr15:87671379-87671380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565287533	chr15:87671384-87671385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532539588	chr15:87671391-87671392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551340716	chr15:87671412-87671413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563175421	chr15:87671429-87671430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530264702	chr15:87671456-87671457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548779133	chr15:87671542-87671543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566922333	chr15:87671548-87671549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144453890	chr15:87671586-87671587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557440284	chr15:87671593-87671594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147813171	chr15:87671603-87671604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570957651	chr15:87671624-87671625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35404135	chr15:87671629-87671630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147002243	chr15:87671679-87671680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137918620	chr15:87671688-87671689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191600373	chr15:87671737-87671738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1392165	chr15:87671746-87671747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149041313	chr15:87671773-87671774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540769131	chr15:87671798-87671799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183886202	chr15:87671799-87671800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577334968	chr15:87671827-87671828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12902932	chr15:87671832-87671833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs562705462	chr15:87671833-87671834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189656643	chr15:87671844-87671845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115735688	chr15:87671859-87671860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573581681	chr15:87671943-87671944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540952682	chr15:87671947-87671948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145727395	chr15:87671956-87671957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560357244	chr15:87671982-87671983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558917978	chr15:87672042-87672043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527878091	chr15:87672058-87672059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192557982	chr15:87672060-87672061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143017107	chr15:87672140-87672141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538314685	chr15:87672175-87672176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550574934	chr15:87672202-87672203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35750629	chr15:87672206-87672207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184364016	chr15:87672233-87672234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75206089	chr15:87672234-87672235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536559043	chr15:87672274-87672275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541252806	chr15:87672317-87672318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368548519	chr15:87672318-87672319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190628466	chr15:87672319-87672320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74028917	chr15:87672329-87672330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566717778	chr15:87672357-87672358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533950866	chr15:87672361-87672362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182057623	chr15:87672383-87672384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550870356	chr15:87672397-87672398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 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	chr15:87673000-87673800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:87673200-87673800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:87673200-87673800	Enhancers	HMEC	breast
5	chr15:87679400-87679800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:87684000-87684400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:87684400-87685400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:87685400-87686000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:87686000-87686200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:87687600-87689000	Enhancers	NH-A	brain
11	chr15:87687800-87688600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:87688200-87689400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:87688600-87689600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:87689600-87689800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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