Variant report

Variant	nsv962442
Chromosome Location	chr17:20720727-20729310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDRT15L2-6	chr17:20725611-20728107	FPKM1_group_12497_transcript_4
2	lnc-CDRT15L2-6	chr17:20725246-20725730	FPKM1_group_12497_transcript_4
3	lnc-CDRT15L2-6	chr17:20725246-20725730	NONHSAT146837
4	lnc-CDRT15L2-6	chr17:20728896-20731392	NONHSAT146837

Extended variants
information (count: 305 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368181689	chr17:20720745-20720746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141026918	chr17:20720784-20720785	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533233674	chr17:20720798-20720799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113976478	chr17:20720812-20720813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139380893	chr17:20720868-20720869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530923423	chr17:20720926-20720927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549021765	chr17:20720977-20720978	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185356789	chr17:20720982-20720983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528722954	chr17:20720990-20720991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113818941	chr17:20721303-20721304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571866585	chr17:20721315-20721316	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572280401	chr17:20721323-20721324	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189818309	chr17:20721353-20721354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113586630	chr17:20721362-20721363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182083741	chr17:20721378-20721379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143917301	chr17:20721384-20721385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372374490	chr17:20721438-20721439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573665816	chr17:20721457-20721458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534543890	chr17:20721459-20721460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553106184	chr17:20721503-20721504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577876481	chr17:20721550-20721551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544865750	chr17:20721571-20721572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563346462	chr17:20721583-20721584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112059552	chr17:20721595-20721596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542604935	chr17:20721596-20721597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558107067	chr17:20721607-20721608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148113398	chr17:20721608-20721609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561251142	chr17:20721636-20721637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578019468	chr17:20721654-20721655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150628580	chr17:20721673-20721674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76854743	chr17:20721674-20721675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372802023	chr17:20721678-20721679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34343173	chr17:20721682-20721683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528555173	chr17:20721684-20721685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144266793	chr17:20721692-20721693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148461029	chr17:20721716-20721717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532857863	chr17:20721721-20721722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551501596	chr17:20721723-20721724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10626402	chr17:20721730-20721731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377139164	chr17:20721731-20721732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370636424	chr17:20721732-20721733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147159506	chr17:20721744-20721745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71897673	chr17:20721745-20721746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551341014	chr17:20721752-20721753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569561269	chr17:20721757-20721758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537077735	chr17:20721761-20721762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398119752	chr17:20721764-20721765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200834787	chr17:20721765-20721766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548978395	chr17:20721768-20721769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187109159	chr17:20721769-20721770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

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
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20718000-20720800	Weak transcription	Spleen	Spleen
2	chr17:20720200-20720800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:20720400-20724600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:20720600-20721400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:20720800-20721000	ZNF genes & repeats	Spleen	Spleen
6	chr17:20727600-20728600	Enhancers	Fetal Kidney	kidney
7	chr17:20727800-20729200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:20728200-20729600	Enhancers	HepG2	liver
9	chr17:20728400-20729000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr17:20728600-20729000	Enhancers	Primary monocytes fromperipheralblood	blood

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