Variant report

Variant	esv3377392
Chromosome Location	chr17:20344460-20352458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376585015	chr17:20348029-20348030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs145063886	chr17:20348064-20348065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538733887	chr17:20348068-20348069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559156072	chr17:20348071-20348072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571062883	chr17:20348084-20348085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145780380	chr17:20348109-20348110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538513455	chr17:20348126-20348127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62066944	chr17:20348136-20348137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62066945	chr17:20348147-20348148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs148243303	chr17:20348172-20348173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2086878	chr17:20348183-20348184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185016250	chr17:20348184-20348185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144791371	chr17:20350223-20350224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554507678	chr17:20350243-20350244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148547974	chr17:20350301-20350302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11553604	chr17:20350320-20350321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs71247620	chr17:20350440-20350441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140174188	chr17:20350453-20350454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143621490	chr17:20350472-20350473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576559058	chr17:20350482-20350483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200885636	chr17:20350500-20350501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190995318	chr17:20350510-20350511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533891849	chr17:20350522-20350523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71247621	chr17:20350567-20350568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562583867	chr17:20350569-20350570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529961603	chr17:20350583-20350584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4985819	chr17:20350585-20350586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs71247622	chr17:20350604-20350605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560513601	chr17:20350629-20350630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527705093	chr17:20350638-20350639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552635604	chr17:20350651-20350652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376728087	chr17:20350745-20350746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564547679	chr17:20350751-20350752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531886099	chr17:20350771-20350772	Enhancers	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
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20348000-20348200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:20350200-20350800	Enhancers	HUES6 Cell Line	embryonic stem cell

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