Variant report

Variant	esv14728
Chromosome Location	chr15:31966827-31967481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7161839	chr15:31966829-31966830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7177516	chr15:31966860-31966861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571756848	chr15:31966866-31966867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566866602	chr15:31966867-31966868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529432234	chr15:31966880-31966881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549195866	chr15:31966892-31966893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34970269	chr15:31966941-31966942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7179038	chr15:31966954-31966955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34440432	chr15:31966977-31966978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35727601	chr15:31966985-31966986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397854428	chr15:31966988-31966989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537918525	chr15:31966989-31966990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551497579	chr15:31967032-31967033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34211709	chr15:31967053-31967054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35302623	chr15:31967061-31967062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7177933	chr15:31967070-31967071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571505460	chr15:31967102-31967103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534232721	chr15:31967143-31967144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368911488	chr15:31967152-31967153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7178118	chr15:31967158-31967159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35169905	chr15:31967175-31967176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35638262	chr15:31967194-31967195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34843034	chr15:31967255-31967256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7179600	chr15:31967259-31967260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34221717	chr15:31967279-31967280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537762884	chr15:31967304-31967305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368392659	chr15:31967305-31967306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373937281	chr15:31967339-31967340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10569445	chr15:31967353-31967354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373238097	chr15:31967358-31967359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35921305	chr15:31967382-31967383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34127111	chr15:31967397-31967398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556049833	chr15:31967417-31967418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7162598	chr15:31967423-31967424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs36067736	chr15:31967426-31967427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565036348	chr15:31967439-31967440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36091087	chr15:31967474-31967475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	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
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31964800-31975000	Weak transcription	Pancreas	Pancrea
2	chr15:31964800-31979600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:31965400-31968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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