Variant report

Variant	nsv528606
Chromosome Location	chr17:19494178-19495478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 155 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2245639	chr17:19494178-19494179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150942548	chr17:19494243-19494244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553500501	chr17:19494305-19494306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117351092	chr17:19494322-19494323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111357836	chr17:19494324-19494325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556070930	chr17:19494423-19494424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575422704	chr17:19494461-19494462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113616720	chr17:19494463-19494464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557782215	chr17:19494465-19494466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182000793	chr17:19494482-19494483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187156904	chr17:19494483-19494484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369760130	chr17:19494511-19494512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540316105	chr17:19494528-19494529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560271327	chr17:19494543-19494544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373101842	chr17:19494574-19494575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140709984	chr17:19494651-19494652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150102871	chr17:19494665-19494666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531496487	chr17:19494680-19494681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34676250	chr17:19494742-19494743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386796017	chr17:19494744-19494745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199529979	chr17:19494745-19494746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200321493	chr17:19494746-19494747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2453586	chr17:19494756-19494757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs527363118	chr17:19494843-19494844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547495531	chr17:19494916-19494917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567561347	chr17:19494929-19494930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536283767	chr17:19494970-19494971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555741756	chr17:19494987-19494988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35405907	chr17:19494989-19494990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544453504	chr17:19495000-19495001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569211477	chr17:19495038-19495039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191537338	chr17:19495039-19495040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557945826	chr17:19495063-19495064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138601100	chr17:19495128-19495129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540354490	chr17:19495151-19495152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554280691	chr17:19495184-19495185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573946601	chr17:19495210-19495211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543009822	chr17:19495253-19495254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140648932	chr17:19495358-19495359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531651121	chr17:19495378-19495379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545353780	chr17:19495400-19495401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565060319	chr17:19495406-19495407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111978407	chr17:19495413-19495414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527523767	chr17:19495421-19495422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547174300	chr17:19495446-19495447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561043109	chr17:19495476-19495477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2165895	chr17:19495478-19495479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:155)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19493200-19494800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr17:19493200-19499200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr17:19493400-19499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:19493600-19494800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:19493800-19494600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:19494000-19494400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr17:19494200-19495000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:19494200-19495200	Enhancers	HepG2	liver
9	chr17:19494400-19494600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:19494400-19495000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr17:19494800-19497200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:19495200-19495600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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