Variant report

Variant	esv3311735
Chromosome Location	chr15:42585625-42587286
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	chr15:42565354..42567848-chr15:42584150..42585706,2	MCF-7	breast:
2	chr15:42584658..42587621-chr15:42618841..42621037,2	K562	blood:

Variant related genes	Relation type
ENSG00000214013	chromatin interactions
ENSG00000103978	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181367795	chr15:42585628-42585629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372119627	chr15:42585651-42585652	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141737338	chr15:42585661-42585662	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532796710	chr15:42585685-42585686	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542779571	chr15:42585724-42585725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28735757	chr15:42585728-42585729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540363712	chr15:42585742-42585743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561423417	chr15:42585788-42585789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531954354	chr15:42585804-42585805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550488443	chr15:42585847-42585848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376339089	chr15:42585911-42585912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555331097	chr15:42585935-42585936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560386405	chr15:42585953-42585954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572242962	chr15:42585980-42585981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572014614	chr15:42586017-42586018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374761856	chr15:42586033-42586034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540864231	chr15:42586035-42586036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564196624	chr15:42586052-42586053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577796429	chr15:42586057-42586058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367553244	chr15:42586061-42586062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543509098	chr15:42586189-42586190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185638248	chr15:42586199-42586200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528843571	chr15:42586200-42586201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4923942	chr15:42586207-42586208	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374315476	chr15:42586235-42586236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55882551	chr15:42586236-42586237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569071161	chr15:42586278-42586279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528713928	chr15:42586292-42586293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145411543	chr15:42586293-42586294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190797659	chr15:42586373-42586374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201315924	chr15:42586412-42586413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530905735	chr15:42586493-42586494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537167610	chr15:42586532-42586533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550611974	chr15:42586538-42586539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550676121	chr15:42586540-42586541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57002846	chr15:42586541-42586542	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181589408	chr15:42586570-42586571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555679165	chr15:42586603-42586604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12901960	chr15:42586636-42586637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12902081	chr15:42586666-42586667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12902082	chr15:42586667-42586668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12902090	chr15:42586681-42586682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547652725	chr15:42586684-42586685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534847904	chr15:42586686-42586687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12903405	chr15:42586688-42586689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372512409	chr15:42586733-42586734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34588821	chr15:42586772-42586773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577145113	chr15:42586773-42586774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59546846	chr15:42586789-42586790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398027019	chr15:42586791-42586792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42567200-42623600	Weak transcription	Fetal Brain Male	brain
2	chr15:42568400-42604600	Weak transcription	NH-A	brain
3	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
4	chr15:42568600-42587000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:42568600-42587000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:42568600-42593000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr15:42568600-42602600	Weak transcription	Fetal Heart	heart
8	chr15:42568600-42630800	Weak transcription	Dnd41	blood
9	chr15:42569000-42591000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr15:42569400-42602800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:42570200-42585800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:42570200-42586600	Strong transcription	Adipose Nuclei	Adipose
13	chr15:42570600-42586600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:42573400-42635800	Weak transcription	Gastric	stomach
15	chr15:42573600-42587200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:42573600-42602600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:42573800-42592000	Weak transcription	Fetal Brain Female	brain
18	chr15:42573800-42605600	Weak transcription	Pancreas	Pancrea
19	chr15:42574200-42586200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:42576000-42592400	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:42576200-42591600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:42576200-42593000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:42576200-42602800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:42576200-42605800	Weak transcription	Esophagus	oesophagus
25	chr15:42576400-42602000	Weak transcription	Colonic Mucosa	Colon
26	chr15:42576400-42620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:42577000-42590000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:42577800-42616200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:42578600-42592800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:42578800-42586600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr15:42578800-42587200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:42579000-42586800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:42579000-42592400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr15:42579000-42592400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr15:42579200-42588200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:42579200-42589800	Weak transcription	Fetal Lung	lung
37	chr15:42579200-42592400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:42579200-42593400	Weak transcription	Hela-S3	cervix
39	chr15:42579400-42586800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:42579800-42586400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:42580200-42586000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:42580200-42586000	Weak transcription	Fetal Intestine Small	intestine
43	chr15:42580400-42586000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr15:42580600-42590400	Weak transcription	HepG2	liver
45	chr15:42580800-42586800	Strong transcription	Left Ventricle	heart
46	chr15:42581000-42586000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:42581000-42586200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr15:42581000-42587400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:42581000-42588200	Strong transcription	Liver	Liver
50	chr15:42581000-42590800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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