Variant report

Variant	nsv522418
Chromosome Location	chr15:26393202-26402601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 406 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5011160	chr15:26393202-26393203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117278982	chr15:26393231-26393232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536431443	chr15:26393251-26393252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184243690	chr15:26393253-26393254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142879170	chr15:26393268-26393269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151184766	chr15:26393269-26393270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557664139	chr15:26393281-26393282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139307286	chr15:26393285-26393286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144119469	chr15:26393344-26393345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553865531	chr15:26393411-26393412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573671555	chr15:26393433-26393434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573079203	chr15:26393444-26393445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542660829	chr15:26393461-26393462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74004416	chr15:26393493-26393494	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545020611	chr15:26393497-26393498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4614697	chr15:26393512-26393513	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146513096	chr15:26393516-26393517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74375088	chr15:26393518-26393519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4319737	chr15:26393537-26393538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560290591	chr15:26393545-26393546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528853028	chr15:26393579-26393580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141144782	chr15:26393632-26393633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568881279	chr15:26393656-26393657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185760259	chr15:26393691-26393692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1916330	chr15:26393720-26393721	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs74004417	chr15:26393749-26393750	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79337778	chr15:26393761-26393762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs768633	chr15:26393769-26393770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550580126	chr15:26393778-26393779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74577748	chr15:26393794-26393795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74004418	chr15:26393799-26393800	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536795808	chr15:26393811-26393812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182820523	chr15:26393812-26393813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536418841	chr15:26393828-26393829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538926563	chr15:26393854-26393855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145470753	chr15:26393864-26393865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74004419	chr15:26393865-26393866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187081877	chr15:26393876-26393877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561505499	chr15:26393894-26393895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191796032	chr15:26393897-26393898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542734298	chr15:26393899-26393900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562328530	chr15:26393900-26393901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182831378	chr15:26393956-26393957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547042433	chr15:26393963-26393964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35437527	chr15:26394002-26394003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551359570	chr15:26394008-26394009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553116014	chr15:26394018-26394019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148840505	chr15:26394058-26394059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187508767	chr15:26394101-26394102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547181900	chr15:26394159-26394160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
idiopathic generalized epilepsy	19843651	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
abnormal development	18461090	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
Angelman syndrome	21824424	CNVD
Prader-willi syndrome	21824424	CNVD
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	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
Schizophrenia	23813976	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
Intellectual disability	22045946	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Central neurocytomas	17123091	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:26392000-26393400	Weak transcription	Brain Anterior Caudate	brain
2	chr15:26393200-26400600	Weak transcription	Brain Germinal Matrix	brain
3	chr15:26393400-26393600	Enhancers	Brain Anterior Caudate	brain
4	chr15:26393400-26394000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:26393400-26394000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr15:26393600-26395200	Weak transcription	Brain Anterior Caudate	brain
7	chr15:26395800-26396200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr15:26400400-26401000	Weak transcription	Brain Anterior Caudate	brain
9	chr15:26400600-26402000	Enhancers	Brain Germinal Matrix	brain
10	chr15:26401000-26401600	Enhancers	Brain Anterior Caudate	brain
11	chr15:26401200-26404000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr15:26401400-26401800	Enhancers	Stomach Smooth Muscle	stomach
13	chr15:26401400-26402400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:26401600-26402400	Weak transcription	Brain Anterior Caudate	brain
15	chr15:26401600-26402800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:26401600-26403000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:26401800-26402000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr15:26401800-26402600	Enhancers	Brain Angular Gyrus	brain
19	chr15:26401800-26403600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:26402000-26402200	Enhancers	Brain Cingulate Gyrus	brain
21	chr15:26402000-26402400	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr15:26402000-26402400	Active TSS	Stomach Smooth Muscle	stomach
23	chr15:26402200-26402600	Enhancers	Liver	Liver
24	chr15:26402200-26402800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr15:26402200-26403000	Enhancers	Fetal Brain Female	brain
26	chr15:26402400-26402800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:26402400-26402800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr15:26402400-26403000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr15:26402400-26403400	Enhancers	Brain Anterior Caudate	brain
30	chr15:26402400-26403400	Enhancers	Colon Smooth Muscle	Colon
31	chr15:26402400-26404000	Enhancers	Brain Germinal Matrix	brain
32	chr15:26402600-26403200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:26402600-26403200	Enhancers	Pancreas	Pancrea

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