Variant report

Variant	esv13885
Chromosome Location	chr15:33865333-33866938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368686119	chr15:33865341-33865342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370853020	chr15:33865353-33865354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112137567	chr15:33865394-33865395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565581987	chr15:33865438-33865439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1435118	chr15:33865455-33865456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs544368940	chr15:33865522-33865523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562748446	chr15:33865527-33865528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189014229	chr15:33865537-33865538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542357086	chr15:33865551-33865552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549211142	chr15:33865553-33865554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567356162	chr15:33865562-33865563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1435117	chr15:33865643-33865644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555934188	chr15:33865748-33865749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117898931	chr15:33865808-33865809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs968275	chr15:33865825-33865826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374022696	chr15:33865831-33865832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181685509	chr15:33865853-33865854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569113038	chr15:33865894-33865895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8041071	chr15:33865899-33865900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548725255	chr15:33865937-33865938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566734676	chr15:33865957-33865958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs620644	chr15:33865972-33865973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558700828	chr15:33865991-33865992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138865839	chr15:33865995-33865996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538160575	chr15:33865997-33865998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556332404	chr15:33866024-33866025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs683553	chr15:33866078-33866079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs620150	chr15:33866098-33866099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561073686	chr15:33866163-33866164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572868327	chr15:33866220-33866221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576655255	chr15:33866238-33866239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56132512	chr15:33866277-33866278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs682639	chr15:33866278-33866279	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs619196	chr15:33866300-33866301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs141983868	chr15:33866304-33866305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562650715	chr15:33866314-33866315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7176795	chr15:33866315-33866316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7177433	chr15:33866318-33866319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566926999	chr15:33866329-33866330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146297303	chr15:33866339-33866340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559894860	chr15:33866358-33866359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552505968	chr15:33866370-33866371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570798919	chr15:33866456-33866457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8039814	chr15:33866465-33866466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185687351	chr15:33866477-33866478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8041171	chr15:33866510-33866511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs559947826	chr15:33866511-33866512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554095415	chr15:33866515-33866516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142207222	chr15:33866526-33866527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539992288	chr15:33866534-33866535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33827400-33877200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:33846400-33872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:33858000-33921200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:33858600-33895200	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:33859200-33923200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:33860200-33867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:33866200-33866400	Enhancers	Ovary	ovary
8	chr15:33866600-33871200	Weak transcription	Ovary	ovary

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