Variant report

Variant	nsv960153
Chromosome Location	chr17:15738101-15740268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531934329	chr17:15738141-15738142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552000208	chr17:15738228-15738229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571625503	chr17:15738245-15738246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527817122	chr17:15738257-15738258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547437842	chr17:15738276-15738277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565482870	chr17:15738325-15738326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59993026	chr17:15738380-15738381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555251352	chr17:15738399-15738400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568852339	chr17:15738465-15738466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537627824	chr17:15738468-15738469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557967086	chr17:15738489-15738490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577632175	chr17:15738503-15738504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540346056	chr17:15738562-15738563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553444981	chr17:15738607-15738608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573690956	chr17:15738620-15738621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542688047	chr17:15738688-15738689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563175141	chr17:15738742-15738743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114263855	chr17:15738758-15738759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545253885	chr17:15738803-15738804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565488480	chr17:15738809-15738810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527754169	chr17:15738823-15738824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547872090	chr17:15738852-15738853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567281417	chr17:15738915-15738916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530026725	chr17:15738941-15738942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549810747	chr17:15738960-15738961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568796422	chr17:15738961-15738962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537765421	chr17:15738968-15738969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557641338	chr17:15738974-15738975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566367	chr17:15738997-15738998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116480788	chr17:15739000-15739001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141356512	chr17:15739026-15739027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553823490	chr17:15739031-15739032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566246	chr17:15739043-15739044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145091522	chr17:15739106-15739107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542626629	chr17:15739152-15739153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184350678	chr17:15739210-15739211	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs576774111	chr17:15739221-15739222	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs545704000	chr17:15739230-15739231	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs610934	chr17:15739235-15739236	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs2324039	chr17:15739256-15739257	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs189194264	chr17:15739265-15739266	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs561044001	chr17:15739267-15739268	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs3852813	chr17:15739285-15739286	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs530162054	chr17:15739293-15739294	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs182233997	chr17:15739308-15739309	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs2310977	chr17:15739339-15739340	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs140935804	chr17:15739342-15739343	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs2324040	chr17:15739353-15739354	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs185529787	chr17:15739359-15739360	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs143071867	chr17:15739366-15739367	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
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
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
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
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15734400-15738200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:15737600-15740400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr17:15739200-15739400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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