Variant report

Variant	esv3359229
Chromosome Location	chr17:17558377-17561275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149059716	chr17:17558385-17558386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559725810	chr17:17558489-17558490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529104266	chr17:17558528-17558529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183596983	chr17:17558569-17558570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540740654	chr17:17558629-17558630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188487655	chr17:17558634-17558635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531565755	chr17:17558694-17558695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550772989	chr17:17558741-17558742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570928478	chr17:17558746-17558747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560600043	chr17:17558772-17558773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375641905	chr17:17558812-17558813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143320211	chr17:17558814-17558815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566877247	chr17:17558833-17558834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369573843	chr17:17558876-17558877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569482602	chr17:17558880-17558881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148348347	chr17:17558884-17558885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192903803	chr17:17558888-17558889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141547201	chr17:17558916-17558917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575733579	chr17:17558974-17558975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538460306	chr17:17559034-17559035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73290159	chr17:17559073-17559074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577285344	chr17:17559084-17559085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564984280	chr17:17559092-17559093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368648889	chr17:17559106-17559107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184936647	chr17:17559119-17559120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559713856	chr17:17559120-17559121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573341981	chr17:17559142-17559143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531872707	chr17:17559145-17559146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202135507	chr17:17559146-17559147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548419383	chr17:17559150-17559151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568316358	chr17:17559151-17559152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534095103	chr17:17559188-17559189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542542285	chr17:17559194-17559195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57738438	chr17:17559197-17559198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374860832	chr17:17559198-17559199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368067745	chr17:17559200-17559201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531850364	chr17:17559235-17559236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12938993	chr17:17559254-17559255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71355555	chr17:17559265-17559266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566541678	chr17:17559287-17559288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74549046	chr17:17559311-17559312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565081745	chr17:17559431-17559432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533419821	chr17:17559439-17559440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547164819	chr17:17559452-17559453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566865165	chr17:17559496-17559497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535877539	chr17:17559546-17559547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139884719	chr17:17559547-17559548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547872359	chr17:17559568-17559569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559088441	chr17:17559569-17559570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538172881	chr17:17559570-17559571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:161)

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
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
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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17557400-17564400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:17558400-17558800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:17560400-17560600	Active TSS	Psoas Muscle	Psoas
4	chr17:17560800-17566200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:17561000-17561200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:17561200-17561400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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