Variant report

Variant	nsv960154
Chromosome Location	chr17:15754003-15764700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186254746	chr17:15754032-15754033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67660663	chr17:15754058-15754059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532356132	chr17:15754059-15754060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58579260	chr17:15754073-15754074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201920260	chr17:15754074-15754075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149867892	chr17:15754094-15754095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2742004	chr17:15754132-15754133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569258347	chr17:15754151-15754152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2742003	chr17:15754158-15754159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535267647	chr17:15754181-15754182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566065	chr17:15754184-15754185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565290	chr17:15754231-15754232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565200	chr17:15754259-15754260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554741272	chr17:15754316-15754317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574907884	chr17:15754341-15754342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537013445	chr17:15754347-15754348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557347413	chr17:15754357-15754358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576356969	chr17:15754419-15754420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545329684	chr17:15754442-15754443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565217905	chr17:15754454-15754455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572268236	chr17:15754464-15754465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541248749	chr17:15754551-15754552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560805544	chr17:15754609-15754610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529812706	chr17:15754633-15754634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549486002	chr17:15754637-15754638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369868615	chr17:15754727-15754728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532627717	chr17:15754763-15754764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552446356	chr17:15754774-15754775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58466049	chr17:15754777-15754778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528659738	chr17:15754807-15754808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548777147	chr17:15754829-15754830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568434615	chr17:15754830-15754831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537555530	chr17:15754884-15754885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537999	chr17:15754904-15754905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570849244	chr17:15754926-15754927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537919	chr17:15754927-15754928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11870637	chr17:15754932-15754933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2482983	chr17:15754972-15754973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558871293	chr17:15754985-15754986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192414702	chr17:15754989-15754990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562134257	chr17:15761802-15761803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201452460	chr17:15761832-15761833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531030014	chr17:15761859-15761860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113870654	chr17:15761872-15761873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550952192	chr17:15761906-15761907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138552038	chr17:15761958-15761959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541936640	chr17:15761960-15761961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192091478	chr17:15761968-15761969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552427533	chr17:15761975-15761976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73978545	chr17:15761983-15761984	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15750800-15754200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr17:15751200-15754200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:15752600-15754200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr17:15753600-15754200	Enhancers	A549	lung
5	chr17:15753800-15755000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:15761800-15762200	Enhancers	Fetal Heart	heart
7	chr17:15761800-15762400	Enhancers	GM12878-XiMat	blood
8	chr17:15762400-15764400	Weak transcription	GM12878-XiMat	blood
9	chr17:15762400-15765000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:15764400-15764600	Flanking Active TSS	GM12878-XiMat	blood
11	chr17:15764600-15765000	ZNF genes & repeats	GM12878-XiMat	blood

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