Variant report

Variant	esv3402970
Chromosome Location	chr15:30292517-30292879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:30292680-30292830	GM12869	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000259749	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376158949	chr15:30292525-30292526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375691967	chr15:30292526-30292527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139292408	chr15:30292529-30292530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139467559	chr15:30292534-30292535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367655456	chr15:30292554-30292555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532092156	chr15:30292555-30292556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554057540	chr15:30292562-30292563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368924666	chr15:30292574-30292575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369108689	chr15:30292606-30292607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369698067	chr15:30292617-30292618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs8033762	chr15:30292631-30292632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113016669	chr15:30292647-30292648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548009572	chr15:30292649-30292650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567911027	chr15:30292650-30292651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536386118	chr15:30292654-30292655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543283471	chr15:30292655-30292656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146477077	chr15:30292659-30292660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189406628	chr15:30292705-30292706	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs569951508	chr15:30292714-30292715	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs538993567	chr15:30292716-30292717	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558999675	chr15:30292749-30292750	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs572731066	chr15:30292754-30292755	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs147678238	chr15:30292781-30292782	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541725615	chr15:30292798-30292799	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555251198	chr15:30292846-30292847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372318106	chr15:30292855-30292856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142347384	chr15:30292856-30292857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Schizophrenia	19197363	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
Mental retardation	17124404	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Schizophrenia	23813976	CNVD
Cognitive impairment	21505072	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Schizophrenia	20388499	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30281400-30293600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:30282600-30292600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:30283600-30293000	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:30286600-30293200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:30289800-30292600	Weak transcription	Brain Anterior Caudate	brain
6	chr15:30290200-30293800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:30292600-30294200	Enhancers	Brain Anterior Caudate	brain
8	chr15:30292600-30298000	Enhancers	Brain Substantia Nigra	brain

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