Variant report

Variant	nsv520848
Chromosome Location	chr15:33907628-33909822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4238566	chr15:33907628-33907629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13379897	chr15:33907631-33907632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549487361	chr15:33907637-33907638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567682739	chr15:33907849-33907850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4324093	chr15:33907850-33907851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76678624	chr15:33907908-33907909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76799520	chr15:33907951-33907952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10519837	chr15:33907954-33907955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs557629393	chr15:33907964-33907965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576309529	chr15:33907968-33907969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75862447	chr15:33907981-33907982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142509317	chr15:33908003-33908004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574068938	chr15:33908013-33908014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146161761	chr15:33908015-33908016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10519838	chr15:33908018-33908019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533497069	chr15:33908064-33908065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535293758	chr15:33908083-33908084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531514310	chr15:33908095-33908096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12593288	chr15:33908103-33908104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs531023156	chr15:33908137-33908138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56291072	chr15:33908167-33908168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2339314	chr15:33908188-33908189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs16973312	chr15:33908226-33908227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543376354	chr15:33908270-33908271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13379896	chr15:33908279-33908280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565150269	chr15:33908305-33908306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539310002	chr15:33908313-33908314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10519839	chr15:33908316-33908317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs569835324	chr15:33908326-33908327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537279264	chr15:33908356-33908357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187145665	chr15:33908377-33908378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574098817	chr15:33908406-33908407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541406998	chr15:33908442-33908443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370982362	chr15:33908450-33908451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577986636	chr15:33908460-33908461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545342366	chr15:33908467-33908468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190731871	chr15:33908511-33908512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35902297	chr15:33908515-33908516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs56013212	chr15:33908535-33908536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs561436377	chr15:33908572-33908573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7177922	chr15:33908619-33908620	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143815106	chr15:33908650-33908651	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565515228	chr15:33908656-33908657	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532959804	chr15:33908743-33908744	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559912049	chr15:33908766-33908767	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116067588	chr15:33908875-33908876	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569994923	chr15:33908881-33908882	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537240354	chr15:33908898-33908899	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1874279	chr15:33908919-33908920	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183241219	chr15:33908928-33908929	Weak transcription Bivalent Enhancer Enhancers	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:12 , 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	chr15:33893800-33911800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:33895600-33922800	Weak transcription	Aorta	Aorta
7	chr15:33897600-33915800	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:33897600-33919600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:33905400-33908600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:33905600-33915200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:33908600-33909000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr15:33908600-33909200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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