Variant report

Variant	esv1666580
Chromosome Location	chr15:31138782-31139593
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	rs562581908	chr15:31138804-31138805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531633664	chr15:31138808-31138809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551710192	chr15:31138809-31138810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373979345	chr15:31138813-31138814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2955786	chr15:31138834-31138835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368170626	chr15:31138844-31138845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71474628	chr15:31138860-31138861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564840834	chr15:31138875-31138876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527307759	chr15:31138901-31138902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547106639	chr15:31138902-31138903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567340508	chr15:31138904-31138905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561418678	chr15:31138923-31138924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148751651	chr15:31138948-31138949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562543983	chr15:31138967-31138968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112457226	chr15:31139042-31139043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547175875	chr15:31139044-31139045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549554369	chr15:31139090-31139091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111524925	chr15:31139103-31139104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187333887	chr15:31139116-31139117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112346214	chr15:31139122-31139123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371640814	chr15:31139145-31139146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538105678	chr15:31139152-31139153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558042227	chr15:31139157-31139158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199849434	chr15:31139160-31139161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369575292	chr15:31139221-31139222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113216124	chr15:31139232-31139233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113536495	chr15:31139263-31139264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1088473	chr15:31139298-31139299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs565995026	chr15:31139303-31139304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373745030	chr15:31139328-31139329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59970021	chr15:31139336-31139337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7177353	chr15:31139355-31139356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111726361	chr15:31139363-31139364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112542663	chr15:31139372-31139373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1088474	chr15:31139384-31139385	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs574068647	chr15:31139431-31139432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191741004	chr15:31139449-31139450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372221476	chr15:31139476-31139477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555307582	chr15:31139484-31139485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562663453	chr15:31139513-31139514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373506533	chr15:31139517-31139518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569951571	chr15:31139521-31139522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576319648	chr15:31139523-31139524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555910211	chr15:31139527-31139528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371209138	chr15:31139538-31139539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60479252	chr15:31139544-31139545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200181921	chr15:31139547-31139548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139276837	chr15:31139552-31139553	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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