Variant report

Variant	esv19602
Chromosome Location	chr17:20678763-20680217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDRT15L2-5	chr17:20678955-20680218	NONHSAT146832

Extended variants
information (count: 51 )
Associated
traits (count: 149 )

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	rs535005005	chr17:20678773-20678774	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553392883	chr17:20678789-20678790	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77456724	chr17:20678818-20678819	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs571693838	chr17:20678836-20678837	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545523087	chr17:20678865-20678866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs60519754	chr17:20678871-20678872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576171470	chr17:20678882-20678883	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111627402	chr17:20678899-20678900	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376747975	chr17:20678915-20678916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548576905	chr17:20678916-20678917	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188819263	chr17:20678934-20678935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149158611	chr17:20678957-20678958	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs568445815	chr17:20678992-20678993	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs143568419	chr17:20679059-20679060	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs559817410	chr17:20679091-20679092	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542709852	chr17:20679096-20679097	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs148032290	chr17:20679149-20679150	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs377673132	chr17:20679197-20679198	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs551923221	chr17:20679203-20679204	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563735475	chr17:20679248-20679249	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs531018190	chr17:20679292-20679293	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs534069863	chr17:20679295-20679296	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs547861903	chr17:20679348-20679349	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs549601368	chr17:20679356-20679357	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs567749236	chr17:20679396-20679397	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs192895489	chr17:20679401-20679402	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs546868309	chr17:20679417-20679418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs561448934	chr17:20679429-20679430	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs111242150	chr17:20679485-20679486	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs183376733	chr17:20679489-20679490	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs576041368	chr17:20679577-20679578	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536742038	chr17:20679591-20679592	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs531377132	chr17:20679611-20679612	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs147207404	chr17:20679621-20679622	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs561760650	chr17:20679650-20679651	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs541363119	chr17:20679657-20679658	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs559654342	chr17:20679678-20679679	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs578078645	chr17:20679705-20679706	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs548830577	chr17:20679720-20679721	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs200019127	chr17:20679722-20679723	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs202125699	chr17:20679724-20679725	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs543579896	chr17:20679765-20679766	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs563533062	chr17:20679806-20679807	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs138672745	chr17:20679818-20679819	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs549194068	chr17:20679826-20679827	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs561558536	chr17:20679834-20679835	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs528651276	chr17:20679918-20679919	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs112308769	chr17:20679971-20679972	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs571566323	chr17:20680121-20680122	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs372469117	chr17:20680204-20680205	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:149)

Disease	PMID	Source
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	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
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20665400-20687200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:20677800-20679200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:20678200-20679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr17:20678200-20679000	Enhancers	Osteobl	bone
5	chr17:20678200-20679400	Enhancers	Adipose Nuclei	Adipose
6	chr17:20678600-20679400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:20678800-20679200	Enhancers	Fetal Muscle Leg	muscle
8	chr17:20679000-20679200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:20679200-20682000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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