Variant report

Variant	nsv974548
Chromosome Location	chr15:31174187-31175287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556916568	chr15:31174191-31174192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576321564	chr15:31174241-31174242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545392821	chr15:31174292-31174293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558731634	chr15:31174372-31174373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189626496	chr15:31174387-31174388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7175364	chr15:31174419-31174420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560779161	chr15:31174451-31174452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529147078	chr15:31174482-31174483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543280871	chr15:31174493-31174494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8035438	chr15:31174519-31174520	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140630182	chr15:31174522-31174523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552196875	chr15:31174542-31174543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568585428	chr15:31174549-31174550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377005292	chr15:31174554-31174555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528223606	chr15:31174570-31174571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181957236	chr15:31174606-31174607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144191137	chr15:31174615-31174616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186330836	chr15:31174617-31174618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550454666	chr15:31174627-31174628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538650700	chr15:31174628-31174629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558947486	chr15:31174682-31174683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572429530	chr15:31174683-31174684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112903262	chr15:31174687-31174688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571731172	chr15:31174714-31174715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534768926	chr15:31174775-31174776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554662115	chr15:31174782-31174783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554582784	chr15:31174789-31174790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543217969	chr15:31174803-31174804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563433432	chr15:31174816-31174817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145206545	chr15:31174854-31174855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545465902	chr15:31174889-31174890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559329065	chr15:31174901-31174902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576012470	chr15:31174933-31174934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189551627	chr15:31174964-31174965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548272317	chr15:31174972-31174973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561774330	chr15:31174987-31174988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530270048	chr15:31175008-31175009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550394250	chr15:31175032-31175033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570240872	chr15:31175066-31175067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539349298	chr15:31175123-31175124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180792799	chr15:31175140-31175141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148892353	chr15:31175145-31175146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534709157	chr15:31175234-31175235	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143604349	chr15:31175248-31175249	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8036176	chr15:31175269-31175270	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs536839442	chr15:31175275-31175276	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201478404	chr15:31175279-31175280	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186710849	chr15:31175280-31175281	Enhancers Bivalent Enhancer Active TSS 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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31132800-31195600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:31157400-31177600	Weak transcription	Spleen	Spleen
3	chr15:31168400-31177600	Weak transcription	Dnd41	blood
4	chr15:31173600-31181400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr15:31174200-31178000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:31174400-31174600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:31174400-31174600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:31175000-31175200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr15:31175000-31175400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr15:31175000-31175400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr15:31175200-31175400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:31175200-31175600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr15:31175200-31175600	Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr15:31175200-31175600	Enhancers	Thymus	Thymus

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