Variant report

Variant	esv3370219
Chromosome Location	chr15:30362460-30364608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527637812	chr15:30362491-30362492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138613414	chr15:30362499-30362500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546878614	chr15:30362516-30362517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141630352	chr15:30362560-30362561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561237673	chr15:30362576-30362577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188738394	chr15:30362580-30362581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549939676	chr15:30362620-30362621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569885536	chr15:30362670-30362671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532121303	chr15:30362690-30362691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112158845	chr15:30362757-30362758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565540522	chr15:30362805-30362806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146375642	chr15:30362889-30362890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368657488	chr15:30362894-30362895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576891267	chr15:30362895-30362896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79166341	chr15:30362907-30362908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77490394	chr15:30362910-30362911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554940735	chr15:30362913-30362914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193213158	chr15:30362941-30362942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139362755	chr15:30362965-30362966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374562046	chr15:30362977-30362978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576929303	chr15:30363015-30363016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545176061	chr15:30363039-30363040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112816833	chr15:30363108-30363109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572390245	chr15:30363141-30363142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541011800	chr15:30363142-30363143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535804400	chr15:30363155-30363156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530347038	chr15:30363156-30363157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550681643	chr15:30363211-30363212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144402435	chr15:30363224-30363225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563737385	chr15:30363307-30363308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529778450	chr15:30363343-30363344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200040871	chr15:30363375-30363376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182211541	chr15:30363377-30363378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552030208	chr15:30363383-30363384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537829958	chr15:30363456-30363457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535904498	chr15:30363466-30363467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201266434	chr15:30363483-30363484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186558936	chr15:30363509-30363510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12898958	chr15:30363549-30363550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565755501	chr15:30363552-30363553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528105259	chr15:30363564-30363565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372356662	chr15:30363578-30363579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202133919	chr15:30363592-30363593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61615130	chr15:30363597-30363598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58232655	chr15:30363649-30363650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536864019	chr15:30363660-30363661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61302103	chr15:30363733-30363734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs59325541	chr15:30363744-30363745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376506900	chr15:30363802-30363803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376714756	chr15:30363803-30363804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
idiopathic generalized epilepsy	19843651	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30357400-30364000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:30358200-30367200	Weak transcription	Brain Anterior Caudate	brain
3	chr15:30360400-30364800	Weak transcription	HSMMtube	muscle
4	chr15:30361200-30364000	Weak transcription	HSMM	muscle
5	chr15:30361600-30362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:30362800-30364800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:30364000-30364200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:30364000-30364200	Enhancers	HSMM	muscle
9	chr15:30364200-30364600	Weak transcription	HSMM	muscle
10	chr15:30364600-30365400	Enhancers	HSMM	muscle

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