Variant report

Variant	esv3521612
Chromosome Location	chr15:73667999-73671397
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: 158 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572725472	chr15:73668021-73668022	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs191446509	chr15:73668045-73668046	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs7178084	chr15:73668046-73668047	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547858493	chr15:73668051-73668052	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs182738249	chr15:73668140-73668141	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs530429087	chr15:73668153-73668154	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs548830469	chr15:73668162-73668163	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs368426934	chr15:73668164-73668165	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs116829422	chr15:73668186-73668187	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs537683829	chr15:73668209-73668210	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188112492	chr15:73668214-73668215	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558872934	chr15:73668220-73668221	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192942494	chr15:73668313-73668314	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112787298	chr15:73668402-73668403	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184635445	chr15:73668406-73668407	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190240777	chr15:73668429-73668430	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551870198	chr15:73668436-73668437	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191983658	chr15:73668483-73668484	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542577400	chr15:73668602-73668603	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs554877565	chr15:73668611-73668612	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs61197578	chr15:73668613-73668614	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543642784	chr15:73668630-73668631	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs565074321	chr15:73668636-73668637	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs185066726	chr15:73668645-73668646	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs138521191	chr15:73668690-73668691	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs559803405	chr15:73668693-73668694	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs76495120	chr15:73668728-73668729	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs548270877	chr15:73668729-73668730	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs149439182	chr15:73668736-73668737	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs201441382	chr15:73668741-73668742	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs531106083	chr15:73668757-73668758	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs552740972	chr15:73668771-73668772	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs74022961	chr15:73668774-73668775	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs538361470	chr15:73668778-73668779	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs148150319	chr15:73668787-73668788	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs565416038	chr15:73668792-73668793	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs116073911	chr15:73668794-73668795	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs554259146	chr15:73668799-73668800	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs576332900	chr15:73668809-73668810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141948331	chr15:73668816-73668817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199559303	chr15:73668842-73668843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202148030	chr15:73668865-73668866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386785316	chr15:73668867-73668868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114586522	chr15:73668868-73668869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189446492	chr15:73668881-73668882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577079582	chr15:73668887-73668888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147286113	chr15:73668900-73668901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200596710	chr15:73668917-73668918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202059176	chr15:73668928-73668929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113269690	chr15:73668958-73668959	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73665000-73668000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr15:73665600-73668400	Enhancers	Left Ventricle	heart
3	chr15:73665600-73668800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:73666200-73668800	Enhancers	Right Ventricle	heart
5	chr15:73666600-73668600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:73666800-73668200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:73666800-73668800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr15:73667000-73668000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr15:73667000-73668200	Bivalent Enhancer	Fetal Stomach	stomach
10	chr15:73667000-73668400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr15:73667000-73668400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:73667000-73668600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr15:73667000-73672600	Enhancers	Fetal Heart	heart
14	chr15:73667600-73668200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:73667600-73668200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr15:73667600-73668200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr15:73667600-73668600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr15:73667600-73668600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:73667800-73668200	Enhancers	Right Atrium	heart
20	chr15:73667800-73668400	Enhancers	Brain Germinal Matrix	brain
21	chr15:73668000-73668200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:73668000-73668400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr15:73668000-73668400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr15:73668200-73668400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:73668200-73668800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:73668200-73675800	Weak transcription	Right Atrium	heart
27	chr15:73668400-73669400	Weak transcription	Left Ventricle	heart
28	chr15:73668600-73674400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:73668800-73670400	Weak transcription	Right Ventricle	heart
30	chr15:73669400-73669600	Enhancers	Left Ventricle	heart
31	chr15:73669600-73670200	Weak transcription	Left Ventricle	heart
32	chr15:73670200-73670400	Enhancers	Left Ventricle	heart
33	chr15:73670400-73670600	Enhancers	Right Ventricle	heart
34	chr15:73670600-73670800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:73670600-73671800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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