Variant report

Variant	esv3315491
Chromosome Location	chr17:15047927-15053025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15034854..15037130-chr17:15046281..15047944,2	K562	blood:
2	chr17:15050928..15053562-chr17:15069827..15072655,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367811480	chr17:15048611-15048612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544772796	chr17:15048661-15048662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564749276	chr17:15048678-15048679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527536802	chr17:15048691-15048692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201811466	chr17:15048705-15048706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552352308	chr17:15048712-15048713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560930631	chr17:15048732-15048733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7217105	chr17:15048783-15048784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs58073472	chr17:15048826-15048827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549826075	chr17:15048837-15048838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188408800	chr17:15048856-15048857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138327659	chr17:15048859-15048860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144053474	chr17:15048893-15048894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570652217	chr17:15048935-15048936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192693124	chr17:15048937-15048938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184685860	chr17:15048954-15048955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535321116	chr17:15048978-15048979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555000373	chr17:15048983-15048984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568423217	chr17:15048994-15048995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537025674	chr17:15048995-15048996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190015310	chr17:15049041-15049042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541511188	chr17:15049086-15049087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576888670	chr17:15049098-15049099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58228877	chr17:15049119-15049120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572187226	chr17:15049145-15049146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181407012	chr17:15049153-15049154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578041664	chr17:15049159-15049160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112923829	chr17:15049191-15049192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145586607	chr17:15050213-15050214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185038863	chr17:15050217-15050218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191619801	chr17:15050296-15050297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10459905	chr17:15050323-15050324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181292490	chr17:15050397-15050398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148648513	chr17:15050448-15050449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555421092	chr17:15050465-15050466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370903757	chr17:15050487-15050488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79807056	chr17:15050491-15050492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565857779	chr17:15050508-15050509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142059220	chr17:15050531-15050532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10459906	chr17:15050582-15050583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186342039	chr17:15050588-15050589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577234776	chr17:15050598-15050599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545785026	chr17:15050692-15050693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8065662	chr17:15050715-15050716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572806820	chr17:15050729-15050730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10459907	chr17:15050737-15050738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578155645	chr17:15050742-15050743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114313801	chr17:15050771-15050772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151130665	chr17:15050775-15050776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140239593	chr17:15050782-15050783	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
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
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
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
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Autism	18522746	CNVD
Epilepsy	21635232	CNVD
Autism	22543975	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15048600-15049200	Enhancers	Fetal Stomach	stomach
2	chr17:15050200-15050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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