Variant report

Variant	esv14938
Chromosome Location	chr15:33863708-33866938
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	chr15:33857269..33859324-chr15:33862505..33864558,2	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs549739425	chr15:33863729-33863730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561463333	chr15:33863760-33863761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528724624	chr15:33863803-33863804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76015459	chr15:33863808-33863809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11853587	chr15:33863817-33863818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs533049373	chr15:33863898-33863899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150934161	chr15:33863916-33863917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193019893	chr15:33863926-33863927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539401475	chr15:33863933-33863934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569349616	chr15:33863938-33863939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551389979	chr15:33863952-33863953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536942892	chr15:33863968-33863969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184052815	chr15:33863981-33863982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555267745	chr15:33864007-33864008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567106063	chr15:33864048-33864049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370399361	chr15:33864088-33864089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553157434	chr15:33864127-33864128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142005644	chr15:33864132-33864133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545495607	chr15:33864201-33864202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187268070	chr15:33864312-33864313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575756509	chr15:33864342-33864343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145742810	chr15:33864348-33864349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561603605	chr15:33864384-33864385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7169363	chr15:33864400-33864401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9635321	chr15:33864417-33864418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113305807	chr15:33864482-33864483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139382921	chr15:33864520-33864521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35069529	chr15:33864526-33864527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192149468	chr15:33864532-33864533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551499229	chr15:33864559-33864560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183915209	chr15:33864586-33864587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7167772	chr15:33864610-33864611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573749854	chr15:33864638-33864639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7169123	chr15:33864645-33864646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567197730	chr15:33864672-33864673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534924385	chr15:33864674-33864675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188736839	chr15:33864682-33864683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556195497	chr15:33864702-33864703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571461773	chr15:33864707-33864708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192698512	chr15:33864719-33864720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557518361	chr15:33864720-33864721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575694134	chr15:33864723-33864724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184147423	chr15:33864732-33864733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7167970	chr15:33864740-33864741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs368645918	chr15:33864760-33864761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111563916	chr15:33864776-33864777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545046912	chr15:33864825-33864826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71117149	chr15:33864839-33864840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111990393	chr15:33864840-33864841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368776999	chr15:33864852-33864853	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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