Variant report

Variant	esv17697
Chromosome Location	chr15:72016482-72017489
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	chr15:72016048..72017997-chr15:72020066..72022760,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547705904	chr15:72016482-72016483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376031295	chr15:72016499-72016500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12437539	chr15:72016522-72016523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144736427	chr15:72016606-72016607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371612754	chr15:72016623-72016624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78123018	chr15:72016624-72016625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201328268	chr15:72016625-72016626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76981974	chr15:72016626-72016627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200406464	chr15:72016628-72016629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200981741	chr15:72016633-72016634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202111388	chr15:72016634-72016635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200222262	chr15:72016635-72016636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200706418	chr15:72016636-72016637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201576024	chr15:72016637-72016638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375467629	chr15:72016663-72016664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186329070	chr15:72016694-72016695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558151273	chr15:72016711-72016712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578052550	chr15:72016726-72016727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545365642	chr15:72016728-72016729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371143403	chr15:72016816-72016817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28588514	chr15:72016866-72016867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28616662	chr15:72016870-72016871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs28419058	chr15:72016876-72016877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528204868	chr15:72016916-72016917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111366207	chr15:72016922-72016923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55666755	chr15:72016924-72016925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs398099888	chr15:72016929-72016930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544749338	chr15:72016970-72016971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564565663	chr15:72016971-72016972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189944766	chr15:72017012-72017013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550100452	chr15:72017052-72017053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557840345	chr15:72017101-72017102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577995527	chr15:72017117-72017118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529512613	chr15:72017143-72017144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549560573	chr15:72017160-72017161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55957649	chr15:72017175-72017176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112806729	chr15:72017185-72017186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139615593	chr15:72017208-72017209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55974051	chr15:72017221-72017222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111386745	chr15:72017237-72017238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535143253	chr15:72017255-72017256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28405847	chr15:72017308-72017309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182104736	chr15:72017324-72017325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs55798871	chr15:72017365-72017366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187204740	chr15:72017398-72017399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191599351	chr15:72017435-72017436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540893618	chr15:72017482-72017483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564051688	chr15:72017484-72017485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Intellectual disability	22102821	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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17440070	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72000800-72023400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:72002400-72022600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:72002600-72022600	Weak transcription	Fetal Muscle Leg	muscle
4	chr15:72003200-72018000	Weak transcription	Ovary	ovary
5	chr15:72005800-72024600	Weak transcription	Left Ventricle	heart
6	chr15:72009200-72030000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:72009800-72017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:72009800-72017000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:72009800-72017000	Weak transcription	NHEK	skin
10	chr15:72009800-72020800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:72010000-72017600	Weak transcription	NHLF	lung
12	chr15:72010200-72020800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:72010200-72023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:72010800-72017000	Weak transcription	Hela-S3	cervix
15	chr15:72016200-72017000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:72016800-72017000	Enhancers	Placenta	Placenta
17	chr15:72017000-72017200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:72017000-72018000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:72017000-72018000	Enhancers	NHEK	skin
20	chr15:72017000-72018200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:72017000-72018200	Enhancers	A549	lung
22	chr15:72017000-72018800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:72017000-72018800	Enhancers	Hela-S3	cervix
24	chr15:72017000-72048800	Weak transcription	Placenta	Placenta
25	chr15:72017200-72017600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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