Variant report

Variant	esv3437630
Chromosome Location	chr17:20711585-20714133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:20712079-20712167	K562	blood:	n/a	n/a
2	POLR2A	chr17:20712377-20712604	K562	blood:	n/a	n/a
3	USF1	chr17:20713001-20713122	HepG2	liver:	n/a	chr17:20713076-20713087

Variant related genes	Relation type
ABHD17AP6	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547865346	chr17:20711591-20711592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533860378	chr17:20711594-20711595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556771744	chr17:20711595-20711596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577135074	chr17:20711598-20711599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202206160	chr17:20711621-20711622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531924102	chr17:20711656-20711657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112159250	chr17:20711662-20711663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550406676	chr17:20711739-20711740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113868313	chr17:20711753-20711754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189019279	chr17:20711760-20711761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182566826	chr17:20711761-20711762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186250769	chr17:20711763-20711764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570536474	chr17:20711765-20711766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566266331	chr17:20711790-20711791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527365842	chr17:20711795-20711796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2310988	chr17:20711824-20711825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148497240	chr17:20711833-20711834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570591703	chr17:20711890-20711891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199745611	chr17:20711893-20711894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537760928	chr17:20711899-20711900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556378148	chr17:20711951-20711952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568361382	chr17:20711961-20711962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3969957	chr17:20711970-20711971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151055452	chr17:20712004-20712005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377062844	chr17:20712051-20712052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554185240	chr17:20712078-20712079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572592524	chr17:20712125-20712126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189048250	chr17:20712152-20712153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558075275	chr17:20712167-20712168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576531922	chr17:20712173-20712174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554016255	chr17:20712183-20712184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543649331	chr17:20712209-20712210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111932368	chr17:20712288-20712289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562444223	chr17:20712299-20712300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371457655	chr17:20712300-20712301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541455433	chr17:20712301-20712302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559693352	chr17:20712324-20712325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181488861	chr17:20712327-20712328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552209209	chr17:20712358-20712359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576552077	chr17:20712393-20712394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570558462	chr17:20712401-20712402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531582498	chr17:20712419-20712420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549692539	chr17:20712449-20712450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142314342	chr17:20712517-20712518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140925848	chr17:20712531-20712532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76357469	chr17:20712554-20712555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201935087	chr17:20712569-20712570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199968685	chr17:20712578-20712579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536192140	chr17:20712624-20712625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185753440	chr17:20712666-20712667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	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
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20705400-20718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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