Variant report

Variant	nsv962385
Chromosome Location	chr17:20579736-20585142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 213 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117976645	chr17:20579758-20579759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563854353	chr17:20579836-20579837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531387831	chr17:20579847-20579848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549977482	chr17:20579862-20579863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530005	chr17:20579976-20579977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568260932	chr17:20579979-20579980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529882	chr17:20580016-20580017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140989187	chr17:20580050-20580051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144640959	chr17:20580054-20580055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529137	chr17:20580061-20580062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147464779	chr17:20580067-20580068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2255924	chr17:20580088-20580089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558247786	chr17:20580106-20580107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2779237	chr17:20580163-20580164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528162	chr17:20580186-20580187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569553155	chr17:20580205-20580206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142893648	chr17:20580215-20580216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185077963	chr17:20580249-20580250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs599106	chr17:20580254-20580255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574163382	chr17:20580305-20580306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541666601	chr17:20580357-20580358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559818111	chr17:20580472-20580473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151063051	chr17:20580477-20580478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189491704	chr17:20580519-20580520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563817596	chr17:20580538-20580539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531354543	chr17:20580570-20580571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115956713	chr17:20580589-20580590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189678985	chr17:20580604-20580605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535252947	chr17:20580610-20580611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180975558	chr17:20580612-20580613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529081478	chr17:20580656-20580657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547638392	chr17:20580660-20580661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565992472	chr17:20580670-20580671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369379738	chr17:20580689-20580690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551824958	chr17:20580726-20580727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144076657	chr17:20580755-20580756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537514550	chr17:20580758-20580759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555584918	chr17:20580774-20580775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574153205	chr17:20580796-20580797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534922692	chr17:20580808-20580809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553235849	chr17:20580887-20580888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs596008	chr17:20580901-20580902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185149822	chr17:20580909-20580910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557371041	chr17:20580935-20580936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375814523	chr17:20580938-20580939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs595899	chr17:20580969-20580970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188042375	chr17:20580976-20580977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111644151	chr17:20581023-20581024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs529047148	chr17:20581043-20581044	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs144857535	chr17:20581047-20581048	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	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
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20572000-20581000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr17:20576600-20581000	Enhancers	Primary B cells from peripheral blood	blood
3	chr17:20577200-20580000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr17:20579000-20583000	Enhancers	GM12878-XiMat	blood
5	chr17:20579400-20583000	Enhancers	Primary B cells from cord blood	blood
6	chr17:20579600-20580000	Enhancers	Fetal Heart	heart
7	chr17:20579600-20581400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:20580000-20583000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr17:20581000-20581400	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr17:20581000-20582800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr17:20581400-20585800	Enhancers	Primary B cells from peripheral blood	blood
12	chr17:20582600-20582800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:20584600-20585000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:20585000-20585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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