Variant report

Variant	nsv1483
Chromosome Location	chr15:33904964-33916254
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	chr15:33584632..33585370-chr15:33915174..33915828,2	MCF-7	breast:
2	chr15:33904850..33906861-chr15:33932211..33933758,2	MCF-7	breast:

Extended variants
information (count: 505 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117407746	chr15:33905015-33905016	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs35951792	chr15:33905036-33905037	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs560764878	chr15:33905056-33905057	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs542308007	chr15:33905065-33905066	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs577512751	chr15:33905091-33905092	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs538044885	chr15:33905139-33905140	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs139411945	chr15:33905142-33905143	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs150051132	chr15:33905153-33905154	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs115172817	chr15:33905199-33905200	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs207475393	chr15:33905238-33905239	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs145402640	chr15:33905268-33905269	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572732738	chr15:33905301-33905302	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs565283781	chr15:33905304-33905305	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs41279204	chr15:33905353-33905354	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527631281	chr15:33905357-33905358	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs374281503	chr15:33905362-33905363	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs547820299	chr15:33905380-33905381	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs267604157	chr15:33905387-33905388	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs2229116	chr15:33905410-33905411	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
20	rs201215774	chr15:33905433-33905434	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs373406620	chr15:33905435-33905436	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs376016972	chr15:33905485-33905486	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs370168429	chr15:33905505-33905506	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs35192193	chr15:33905507-33905508	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs374513025	chr15:33905511-33905512	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs145097742	chr15:33905520-33905521	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs370677674	chr15:33905533-33905534	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs374380667	chr15:33905572-33905573	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs368529556	chr15:33905584-33905585	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs148303898	chr15:33905590-33905591	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs529862889	chr15:33905591-33905592	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs371622537	chr15:33905608-33905609	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs376142569	chr15:33905618-33905619	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs7182536	chr15:33905620-33905621	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs35818231	chr15:33905621-33905622	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs527664958	chr15:33905627-33905628	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs552581981	chr15:33905664-33905665	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs570766057	chr15:33905694-33905695	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs146827008	chr15:33905757-33905758	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs556916495	chr15:33905761-33905762	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs568634086	chr15:33905781-33905782	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112161242	chr15:33905794-33905795	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs71462873	chr15:33905799-33905800	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs143668859	chr15:33905845-33905846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572943356	chr15:33905857-33905858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539840770	chr15:33905867-33905868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558488962	chr15:33905878-33905879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148075117	chr15:33905880-33905881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544074147	chr15:33905887-33905888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555852659	chr15:33905920-33905921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33858000-33921200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:33859200-33923200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:33873000-33923400	Weak transcription	Brain Anterior Caudate	brain
4	chr15:33891800-33921800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:33893800-33905200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:33893800-33911800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:33895600-33922800	Weak transcription	Aorta	Aorta
8	chr15:33897600-33915800	Weak transcription	Fetal Muscle Leg	muscle
9	chr15:33897600-33919600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:33901800-33905000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:33904800-33905000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:33904800-33905200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:33904800-33905400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:33904800-33905400	Bivalent Enhancer	HSMMtube	muscle
15	chr15:33905000-33905200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr15:33905000-33905400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:33905000-33905400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:33905000-33905400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:33905000-33905400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:33905000-33905800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:33905200-33905600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr15:33905200-33905600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr15:33905200-33905600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:33905200-33905800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:33905400-33905600	Flanking Bivalent TSS/Enh	HSMMtube	muscle
26	chr15:33905400-33905800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:33905400-33908600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:33905600-33915200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:33908600-33909000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr15:33908600-33909200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:33910800-33911000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr15:33911800-33912600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:33912600-33918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:33913000-33932200	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:33915000-33959400	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:33915200-33915400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:33915400-33925800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:33915400-33925800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr15:33915800-33916400	Strong transcription	Fetal Muscle Leg	muscle
40	chr15:33916000-33916600	Enhancers	H1 Cell Line	embryonic stem cell

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