Variant report

Variant	esv3311857
Chromosome Location	chr15:82565697-82567902
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	chr15:82556066..82557698-chr15:82564817..82567206,2	MCF-7	breast:
2	chr15:82557073..82558574-chr15:82565794..82567576,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567299220	chr15:82565719-82565720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs536439197	chr15:82565747-82565748	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549745999	chr15:82565794-82565795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569913472	chr15:82565991-82565992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141474424	chr15:82566016-82566017	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192289452	chr15:82566028-82566029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560426756	chr15:82566037-82566038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs147007301	chr15:82566068-82566069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs58303451	chr15:82566069-82566070	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs7165536	chr15:82566084-82566085	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574090463	chr15:82566175-82566176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543188995	chr15:82566221-82566222	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138120652	chr15:82566227-82566228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs143587934	chr15:82566242-82566243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545259082	chr15:82566286-82566287	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565243686	chr15:82566293-82566294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs527290623	chr15:82566319-82566320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570005261	chr15:82566320-82566321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs185598705	chr15:82566323-82566324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111803183	chr15:82566324-82566325	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs150855634	chr15:82566345-82566346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529781206	chr15:82566348-82566349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs190570871	chr15:82566382-82566383	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550696502	chr15:82566470-82566471	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138195049	chr15:82566532-82566533	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192678621	chr15:82566690-82566691	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149583683	chr15:82566736-82566737	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184131820	chr15:82566752-82566753	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189461954	chr15:82566815-82566816	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534174317	chr15:82566829-82566830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553911251	chr15:82566843-82566844	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567725503	chr15:82566876-82566877	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536318952	chr15:82566979-82566980	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556631728	chr15:82567005-82567006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576186507	chr15:82567011-82567012	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545246705	chr15:82567066-82567067	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558818600	chr15:82567108-82567109	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181089211	chr15:82567125-82567126	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529908082	chr15:82567139-82567140	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28579320	chr15:82567147-82567148	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560695208	chr15:82567210-82567211	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529708833	chr15:82567320-82567321	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543110704	chr15:82567402-82567403	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369804578	chr15:82567469-82567470	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185542665	chr15:82567479-82567480	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28789397	chr15:82567501-82567502	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563400373	chr15:82567521-82567522	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138906832	chr15:82567547-82567548	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188885028	chr15:82567558-82567559	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7496227	chr15:82567582-82567583	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

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
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82555800-82566400	Weak transcription	Ovary	ovary
2	chr15:82556000-82566400	Weak transcription	Fetal Lung	lung
3	chr15:82556200-82567400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:82559600-82567400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:82561200-82568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:82561400-82568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:82561800-82569400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:82562000-82566400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:82562200-82566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:82562200-82567600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:82562400-82566800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:82562400-82568000	Weak transcription	NHEK	skin
13	chr15:82564800-82568200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:82564800-82568600	Weak transcription	Brain Anterior Caudate	brain
15	chr15:82564800-82570000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr15:82565000-82567200	Weak transcription	K562	blood
17	chr15:82566400-82566600	Enhancers	Ovary	ovary
18	chr15:82566400-82566800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:82566400-82568400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr15:82566400-82568400	Strong transcription	Fetal Lung	lung
21	chr15:82566800-82569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:82567600-82567800	Weak transcription	K562	blood

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