Variant report

Variant	esv3429500
Chromosome Location	chr15:31138052-31138445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71420518	chr15:31138052-31138053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35098319	chr15:31138064-31138065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569111189	chr15:31138066-31138067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34479504	chr15:31138068-31138069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199694768	chr15:31138093-31138094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35177949	chr15:31138094-31138095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377350265	chr15:31138117-31138118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531671383	chr15:31138120-31138121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145626404	chr15:31138125-31138126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537914037	chr15:31138133-31138134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150868030	chr15:31138136-31138137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539271448	chr15:31138137-31138138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555517309	chr15:31138141-31138142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547903895	chr15:31138156-31138157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201462078	chr15:31138173-31138174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571266445	chr15:31138198-31138199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375813946	chr15:31138210-31138211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34935517	chr15:31138218-31138219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113534941	chr15:31138226-31138227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200643736	chr15:31138249-31138250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2339044	chr15:31138259-31138260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs2339045	chr15:31138263-31138264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs566924436	chr15:31138307-31138308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144075176	chr15:31138319-31138320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536027171	chr15:31138322-31138323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555719299	chr15:31138343-31138344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199889217	chr15:31138369-31138370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575525174	chr15:31138391-31138392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563853636	chr15:31138392-31138393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544553449	chr15:31138403-31138404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557681664	chr15:31138427-31138428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	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
Prader-willi syndrome	18781185	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
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31120400-31140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:31125600-31140400	Weak transcription	Gastric	stomach
3	chr15:31127000-31157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:31127200-31170000	Weak transcription	Pancreas	Pancrea
5	chr15:31132800-31195600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:31137000-31139800	Weak transcription	Dnd41	blood

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