Variant report

Variant	esv3315494
Chromosome Location	chr17:15052427-15058525
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	chr17:15050928..15053562-chr17:15069827..15072655,2	K562	blood:
2	chr17:14829340..14831544-chr17:15056657..15059444,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574948795	chr17:15057604-15057605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575011211	chr17:15057633-15057634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531852055	chr17:15057643-15057644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542347702	chr17:15057664-15057665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550704555	chr17:15057689-15057690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7218737	chr17:15057691-15057692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533249705	chr17:15057734-15057735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114467861	chr17:15057752-15057753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566110896	chr17:15057778-15057779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528829566	chr17:15057806-15057807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548581997	chr17:15057829-15057830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568569645	chr17:15057830-15057831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149022561	chr17:15057880-15057881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74878933	chr17:15057888-15057889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185537325	chr17:15057908-15057909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116249555	chr17:15057942-15057943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534489278	chr17:15057955-15057956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545504873	chr17:15057994-15057995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189126419	chr17:15058004-15058005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565139110	chr17:15058018-15058019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181673715	chr17:15058041-15058042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117075079	chr17:15058078-15058079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567779922	chr17:15058107-15058108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576610500	chr17:15058109-15058110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562540604	chr17:15058112-15058113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16951092	chr17:15058117-15058118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370358044	chr17:15058125-15058126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55849802	chr17:15058128-15058129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7222030	chr17:15058145-15058146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187314287	chr17:15058177-15058178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74579553	chr17:15058186-15058187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192222548	chr17:15058189-15058190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113882639	chr17:15058219-15058220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1122073	chr17:15058236-15058237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs5819508	chr17:15058271-15058272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1122074	chr17:15058273-15058274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182726777	chr17:15058335-15058336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185063676	chr17:15058387-15058388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568305229	chr17:15058489-15058490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs715192	chr17:15058525-15058526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15057600-15059000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr17:15058000-15058800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr17:15058000-15060800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:15058000-15061200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:15058200-15058600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr17:15058200-15058800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:15058200-15058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:15058200-15059200	Enhancers	Osteobl	bone
9	chr17:15058200-15059600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:15058400-15058800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:15058400-15059200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr17:15058400-15059400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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