Variant report

Variant	esv3355987
Chromosome Location	chr15:73115599-73119897
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	chr15:73116093..73118291-chr15:73121202..73123501,2	MCF-7	breast:
2	chr15:73117992..73120820-chr15:73158775..73160446,2	MCF-7	breast:

Extended variants
information (count: 178 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs530557055	chr15:73115627-73115628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545765848	chr15:73115644-73115645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564059575	chr15:73115732-73115733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563676090	chr15:73115758-73115759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185859951	chr15:73115765-73115766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546396471	chr15:73115773-73115774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148329102	chr15:73115819-73115820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529365430	chr15:73115902-73115903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141448575	chr15:73115906-73115907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190913523	chr15:73115935-73115936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150826165	chr15:73115985-73115986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139253380	chr15:73116004-73116005	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371217919	chr15:73116046-73116047	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183049602	chr15:73116048-73116049	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534349735	chr15:73116049-73116050	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555990005	chr15:73116052-73116053	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574224936	chr15:73116070-73116071	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535180565	chr15:73116092-73116093	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557055620	chr15:73116101-73116102	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575101326	chr15:73116113-73116114	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57901700	chr15:73116126-73116127	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs34852707	chr15:73116134-73116135	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368591370	chr15:73116135-73116136	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572789501	chr15:73116150-73116151	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540182156	chr15:73116156-73116157	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191786174	chr15:73116249-73116250	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146265649	chr15:73116272-73116273	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550762699	chr15:73116323-73116324	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117663517	chr15:73116387-73116388	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139379793	chr15:73116427-73116428	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529943992	chr15:73116498-73116499	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144104205	chr15:73116541-73116542	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531027403	chr15:73116542-73116543	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182865180	chr15:73116557-73116558	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1974970	chr15:73116573-73116574	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531720052	chr15:73116586-73116587	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369760389	chr15:73116605-73116606	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556732869	chr15:73116636-73116637	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78810435	chr15:73116649-73116650	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539185558	chr15:73116668-73116669	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557328041	chr15:73116688-73116689	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533204265	chr15:73116710-73116711	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572533571	chr15:73116730-73116731	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540119265	chr15:73116757-73116758	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571598000	chr15:73116835-73116836	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573728086	chr15:73116909-73116910	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77841441	chr15:73116966-73116967	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117437139	chr15:73117008-73117009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs118183573	chr15:73117111-73117112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533456397	chr15:73117132-73117133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	20808228	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73105800-73117400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:73111400-73118000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:73113800-73118000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:73114200-73125400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:73114400-73127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:73115800-73117800	Enhancers	Fetal Muscle Leg	muscle
7	chr15:73116000-73117000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr15:73116200-73118400	Enhancers	Fetal Stomach	stomach
9	chr15:73117000-73117600	Enhancers	Fetal Muscle Trunk	muscle
10	chr15:73117400-73117800	Enhancers	Spleen	Spleen
11	chr15:73117400-73118000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:73117400-73118000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:73117600-73117800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:73117600-73117800	Bivalent Enhancer	Fetal Kidney	kidney
15	chr15:73117600-73118000	Active TSS	Fetal Lung	lung
16	chr15:73117600-73118000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:73117600-73119800	Enhancers	Adipose Nuclei	Adipose
18	chr15:73117800-73118000	Active TSS	Fetal Kidney	kidney
19	chr15:73117800-73118200	Weak transcription	Fetal Muscle Leg	muscle
20	chr15:73118000-73118600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:73118000-73118800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr15:73118000-73119200	Enhancers	Fetal Muscle Trunk	muscle
23	chr15:73118000-73129200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:73118200-73120200	Enhancers	Fetal Muscle Leg	muscle
25	chr15:73118800-73120200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr15:73119200-73119800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr15:73119600-73120200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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