Variant report

Variant	esv13905
Chromosome Location	chr17:20611603-20615311
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	CEBPB	chr17:20614479-20614538	K562	blood:	n/a	n/a
2	FOXA1	chr17:20614064-20614296	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:20612546-20612927	HepG2	liver:	n/a	n/a
4	ZNF384	chr17:20612421-20612422	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000264874	TF binding region
ENSG00000226521	TF binding region

Extended variants
information (count: 163 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs550302448	chr17:20611607-20611608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114267739	chr17:20611614-20611615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529509312	chr17:20611615-20611616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148208704	chr17:20611641-20611642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547719856	chr17:20611672-20611673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566110807	chr17:20611734-20611735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533590124	chr17:20611747-20611748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551162873	chr17:20611769-20611770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141529149	chr17:20611775-20611776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147080396	chr17:20611785-20611786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537550792	chr17:20611797-20611798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556296718	chr17:20611806-20611807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549661645	chr17:20611845-20611846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535723065	chr17:20611888-20611889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569957261	chr17:20611908-20611909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554154255	chr17:20611917-20611918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572459745	chr17:20611938-20611939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535354463	chr17:20611958-20611959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539305899	chr17:20611963-20611964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200835033	chr17:20611978-20611979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12950355	chr17:20612008-20612009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571977067	chr17:20612022-20612023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188662420	chr17:20612036-20612037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191905414	chr17:20612079-20612080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182677079	chr17:20612080-20612081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187007501	chr17:20612083-20612084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374275389	chr17:20612100-20612101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138459779	chr17:20612104-20612105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533457490	chr17:20612206-20612207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147504249	chr17:20612226-20612227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191389145	chr17:20612240-20612241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184401536	chr17:20612301-20612302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189066860	chr17:20612303-20612304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537913557	chr17:20612311-20612312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193257742	chr17:20612347-20612348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185405517	chr17:20612385-20612386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116444912	chr17:20612386-20612387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371502139	chr17:20612421-20612422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554016063	chr17:20612446-20612447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572322848	chr17:20612455-20612456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368773684	chr17:20612530-20612531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189233294	chr17:20612567-20612568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181598720	chr17:20612599-20612600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576392500	chr17:20612617-20612618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144131214	chr17:20612641-20612642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185820344	chr17:20612717-20612718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573887449	chr17:20612799-20612800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147323276	chr17:20612803-20612804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200376561	chr17:20612816-20612817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201252728	chr17:20612822-20612823	Weak transcription	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20609400-20614800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:20614800-20615000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr17:20615000-20615400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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