Variant report

Variant	nsv978366
Chromosome Location	chr17:15100816-15112780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMP22-5	chr17:15111503-15112656	NONHSAT145789

Extended variants
information (count: 214 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191976067	chr17:15101619-15101620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs535137096	chr17:15101625-15101626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs377181905	chr17:15101631-15101632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs231000	chr17:15101666-15101667	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573884046	chr17:15101668-15101669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550658701	chr17:15101686-15101687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs60339737	chr17:15101701-15101702	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183346935	chr17:15101724-15101725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568256601	chr17:15101738-15101739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs230999	chr17:15101792-15101793	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368528152	chr17:15101890-15101891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79423284	chr17:15101891-15101892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs207476316	chr17:15101907-15101908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529119070	chr17:15101937-15101938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186552134	chr17:15102011-15102012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs552916509	chr17:15102030-15102031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561096435	chr17:15102047-15102048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530239425	chr17:15102073-15102074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs578088651	chr17:15102080-15102081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs202156220	chr17:15102083-15102084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563971090	chr17:15102084-15102085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550456069	chr17:15102087-15102088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550049757	chr17:15102122-15102123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs230998	chr17:15102126-15102127	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141937183	chr17:15102191-15102192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs183414640	chr17:15106808-15106809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528951401	chr17:15106815-15106816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150415298	chr17:15106821-15106822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538102933	chr17:15106829-15106830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186340684	chr17:15106837-15106838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377503245	chr17:15106838-15106839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562262464	chr17:15106845-15106846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527890114	chr17:15106858-15106859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138141276	chr17:15106860-15106861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566417142	chr17:15106870-15106871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191134125	chr17:15106936-15106937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534239375	chr17:15106937-15106938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533889637	chr17:15106952-15106953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111793671	chr17:15106971-15106972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149649847	chr17:15107001-15107002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182509973	chr17:15107008-15107009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369372930	chr17:15107014-15107015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553248652	chr17:15107076-15107077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188423813	chr17:15107081-15107082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536303792	chr17:15107147-15107148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565382709	chr17:15107156-15107157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78050332	chr17:15107163-15107164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556277146	chr17:15107166-15107167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117241288	chr17:15107190-15107191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544103739	chr17:15107210-15107211	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

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
Charcot-marie-tooth disease	22275255	CNVD
Charcot-marie-tooth disease	22180461	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15101600-15101800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:15101800-15102200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:15106800-15107800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:15107800-15108200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:15107800-15108800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:15107800-15109000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:15108200-15108600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:15108400-15108800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr17:15110400-15116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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