Variant report

Variant	nsv960425
Chromosome Location	chr17:16490660-16491873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16487641..16489428-chr17:16491263..16493497,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528935837	chr17:16490702-16490703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548608578	chr17:16490724-16490725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186156068	chr17:16490730-16490731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531162394	chr17:16490748-16490749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552059477	chr17:16490764-16490765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190281781	chr17:16490774-16490775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182309375	chr17:16490790-16490791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138537982	chr17:16490793-16490794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370744877	chr17:16490808-16490809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544148823	chr17:16490823-16490824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11870805	chr17:16490883-16490884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536736969	chr17:16490890-16490891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556642708	chr17:16490924-16490925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576510221	chr17:16490943-16490944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538615543	chr17:16490944-16490945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72051374	chr17:16490965-16490966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375761366	chr17:16490967-16490968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558049053	chr17:16490985-16490986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528382783	chr17:16490988-16490989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560750606	chr17:16490989-16490990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375027135	chr17:16490997-16490998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577833603	chr17:16491030-16491031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186415894	chr17:16491041-16491042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190465516	chr17:16491044-16491045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373668878	chr17:16491107-16491108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9910496	chr17:16491156-16491157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562203179	chr17:16491164-16491165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568028872	chr17:16491199-16491200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113236142	chr17:16491216-16491217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546378268	chr17:16491227-16491228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565598265	chr17:16491281-16491282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527960280	chr17:16491300-16491301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550601677	chr17:16491317-16491318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566670649	chr17:16491322-16491323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71355512	chr17:16491328-16491329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79101964	chr17:16491329-16491330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398041576	chr17:16491339-16491340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548052683	chr17:16491450-16491451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111535202	chr17:16491457-16491458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536798800	chr17:16491480-16491481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550309716	chr17:16491531-16491532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532478954	chr17:16491541-16491542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570130970	chr17:16491603-16491604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539046457	chr17:16491604-16491605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35949011	chr17:16491640-16491641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34046433	chr17:16491671-16491672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55712237	chr17:16491726-16491727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28375681	chr17:16491766-16491767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181712876	chr17:16491784-16491785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553601682	chr17:16491824-16491825	Bivalent/Poised TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:158)

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
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16488200-16491800	Weak transcription	Pancreas	Pancrea
2	chr17:16488200-16492000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:16488200-16492000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:16488200-16492000	Weak transcription	Liver	Liver
5	chr17:16488200-16492000	Weak transcription	Brain Anterior Caudate	brain
6	chr17:16488200-16492000	Weak transcription	Brain Hippocampus Middle	brain
7	chr17:16488200-16492000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:16488200-16492000	Weak transcription	Brain Substantia Nigra	brain
9	chr17:16488200-16492000	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:16488200-16492000	Weak transcription	Psoas Muscle	Psoas
11	chr17:16488200-16492000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:16488200-16492000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:16488200-16492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:16488200-16492200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:16488200-16492200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr17:16488200-16492200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:16488200-16492200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:16488200-16492200	Weak transcription	Placenta	Placenta
19	chr17:16488200-16492200	Weak transcription	Left Ventricle	heart
20	chr17:16488200-16492200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr17:16488200-16492200	Weak transcription	Right Ventricle	heart
22	chr17:16488200-16492200	Weak transcription	HMEC	breast
23	chr17:16488400-16492000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:16488400-16492000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:16489200-16492200	Weak transcription	Lung	lung
26	chr17:16489600-16492000	Weak transcription	Adipose Nuclei	Adipose
27	chr17:16491800-16492000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr17:16491800-16492200	Enhancers	Pancreas	Pancrea
29	chr17:16491800-16493000	Active TSS	Brain Inferior Temporal Lobe	brain

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