Variant report

Variant	esv20092
Chromosome Location	chr15:73668771-73670846
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	chr15:73667033..73669019-chr15:73678260..73680889,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552740972	chr15:73668771-73668772	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs74022961	chr15:73668774-73668775	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538361470	chr15:73668778-73668779	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs148150319	chr15:73668787-73668788	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs565416038	chr15:73668792-73668793	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs116073911	chr15:73668794-73668795	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs554259146	chr15:73668799-73668800	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs576332900	chr15:73668809-73668810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141948331	chr15:73668816-73668817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199559303	chr15:73668842-73668843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs202148030	chr15:73668865-73668866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386785316	chr15:73668867-73668868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114586522	chr15:73668868-73668869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189446492	chr15:73668881-73668882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577079582	chr15:73668887-73668888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147286113	chr15:73668900-73668901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200596710	chr15:73668917-73668918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202059176	chr15:73668928-73668929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113269690	chr15:73668958-73668959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559919785	chr15:73668978-73668979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7183206	chr15:73669006-73669007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542253207	chr15:73669038-73669039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368521637	chr15:73669086-73669087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531244426	chr15:73669108-73669109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552559998	chr15:73669110-73669111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180980660	chr15:73669140-73669141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564360755	chr15:73669164-73669165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528686921	chr15:73669184-73669185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546776174	chr15:73669189-73669190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553396762	chr15:73669195-73669196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565479633	chr15:73669259-73669260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535961954	chr15:73669270-73669271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35826911	chr15:73669282-73669283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372102034	chr15:73669296-73669297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142222485	chr15:73669313-73669314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537369587	chr15:73669319-73669320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368179026	chr15:73669327-73669328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577193195	chr15:73669332-73669333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534853695	chr15:73669344-73669345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113245409	chr15:73669439-73669440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111440469	chr15:73669524-73669525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553198044	chr15:73669533-73669534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574876833	chr15:73669544-73669545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541917948	chr15:73669556-73669557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563716278	chr15:73669561-73669562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372873933	chr15:73669567-73669568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575521230	chr15:73669586-73669587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367869554	chr15:73669592-73669593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371293125	chr15:73669632-73669633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374768960	chr15:73669639-73669640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73665600-73668800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:73666200-73668800	Enhancers	Right Ventricle	heart
3	chr15:73666800-73668800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr15:73667000-73672600	Enhancers	Fetal Heart	heart
5	chr15:73668200-73668800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:73668200-73675800	Weak transcription	Right Atrium	heart
7	chr15:73668400-73669400	Weak transcription	Left Ventricle	heart
8	chr15:73668600-73674400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:73668800-73670400	Weak transcription	Right Ventricle	heart
10	chr15:73669400-73669600	Enhancers	Left Ventricle	heart
11	chr15:73669600-73670200	Weak transcription	Left Ventricle	heart
12	chr15:73670200-73670400	Enhancers	Left Ventricle	heart
13	chr15:73670400-73670600	Enhancers	Right Ventricle	heart
14	chr15:73670600-73670800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:73670600-73671800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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