Variant report

Variant	nsv978481
Chromosome Location	chr17:20252145-20261474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144C-1	chr17:20254251-20254284	NR_023380
2	lnc-CCDC144C-1	chr17:20254570-20254711	NR_023380
3	lnc-CCDC144C-1	chr17:20261192-20261409	NR_023380

Extended variants
information (count: 182 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs368024222	chr17:20254259-20254260	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs149532100	chr17:20254261-20254262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs534376574	chr17:20254267-20254268	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs201588554	chr17:20254282-20254283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs560337019	chr17:20254477-20254478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527933094	chr17:20254479-20254480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552462483	chr17:20254480-20254481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564840565	chr17:20254499-20254500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532008129	chr17:20254533-20254534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371324523	chr17:20254578-20254579	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs143042302	chr17:20254598-20254599	Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
12	rs200813224	chr17:20254601-20254602	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs201988690	chr17:20254627-20254628	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs548374815	chr17:20254630-20254631	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs566672524	chr17:20254631-20254632	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs200084662	chr17:20254748-20254749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78019973	chr17:20254786-20254787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570753866	chr17:20254787-20254788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537836905	chr17:20254867-20254868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556539643	chr17:20254995-20254996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2909506	chr17:20255066-20255067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541922841	chr17:20255200-20255201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553908274	chr17:20255246-20255247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146200087	chr17:20255255-20255256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546033243	chr17:20255293-20255294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564600440	chr17:20255323-20255324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532065741	chr17:20255460-20255461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543827533	chr17:20255555-20255556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562523037	chr17:20255564-20255565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529764598	chr17:20255566-20255567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548314096	chr17:20255675-20255676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566609229	chr17:20255701-20255702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2261906	chr17:20255772-20255773	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs552385240	chr17:20255829-20255830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371378983	chr17:20255850-20255851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2261905	chr17:20255855-20255856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570623088	chr17:20256003-20256004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538166099	chr17:20256010-20256011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142924533	chr17:20256029-20256030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189619558	chr17:20256042-20256043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535498403	chr17:20256048-20256049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182321766	chr17:20256071-20256072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540381299	chr17:20256126-20256127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2694322	chr17:20256174-20256175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75599080	chr17:20256200-20256201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200684793	chr17:20256201-20256202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62066885	chr17:20256203-20256204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572234609	chr17:20256219-20256220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186872055	chr17:20256261-20256262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190313122	chr17:20256281-20256282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20254400-20268200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr17:20255800-20256200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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