Variant report

Variant	nsv960542
Chromosome Location	chr17:20298259-20319008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:20301107-20301172	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr17:20308844-20308936	Lung_OC	lung:	n/a	n/a
3	CTCF	chr17:20298343-20298415	GM13976	blood:	n/a	n/a
4	CTCF	chr17:20298641-20298692	GM13976	blood:	n/a	n/a
5	CTCF	chr17:20308873-20308981	Kidney_OC	kidney:	n/a	n/a
6	POLR2A	chr17:20306653-20306808	A549	lung:	n/a	n/a
7	POU2F2	chr17:20318111-20318556	GM12878	blood:	n/a	n/a
8	POU2F2	chr17:20307136-20307513	GM12878	blood:	n/a	n/a
9	ZBTB33	chr17:20318811-20319129	GM12878	blood:	n/a	n/a
10	ZNF384	chr17:20318385-20318436	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144C-1	chr17:20303834-20303876	NR_023380
2	lnc-CCDC144C-1	chr17:20305369-20305504	NR_023380

Variant related genes	Relation type
FAM106B	TF binding region
USP32P3	TF binding region

Extended variants
information (count: 157 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs554129378	chr17:20303857-20303858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs564584494	chr17:20304028-20304029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188209556	chr17:20304047-20304048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115465086	chr17:20304049-20304050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192629475	chr17:20304064-20304065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143564615	chr17:20304071-20304072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369595359	chr17:20304106-20304107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111319512	chr17:20304156-20304157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560073837	chr17:20304196-20304197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs527323307	chr17:20304223-20304224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552216980	chr17:20304254-20304255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570237619	chr17:20304273-20304274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372013682	chr17:20304410-20304411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549577221	chr17:20304423-20304424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567956226	chr17:20304432-20304433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535716411	chr17:20304492-20304493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553814048	chr17:20304497-20304498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572368052	chr17:20304586-20304587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539468387	chr17:20304648-20304649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113336373	chr17:20304671-20304672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558235840	chr17:20304782-20304783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576619439	chr17:20304795-20304796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543973201	chr17:20304796-20304797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562262488	chr17:20304859-20304860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574181437	chr17:20304924-20304925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113445495	chr17:20304966-20304967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541696353	chr17:20305035-20305036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559811954	chr17:20305095-20305096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527251961	chr17:20305099-20305100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551891252	chr17:20305171-20305172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538048771	chr17:20305306-20305307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563801063	chr17:20305320-20305321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375959559	chr17:20305337-20305338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370166680	chr17:20305338-20305339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373830630	chr17:20305339-20305340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201084729	chr17:20305346-20305347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531298401	chr17:20305347-20305348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199531358	chr17:20305365-20305366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185616265	chr17:20305465-20305466	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs567896696	chr17:20305479-20305480	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs535303440	chr17:20305485-20305486	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs200553989	chr17:20305514-20305515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565838929	chr17:20305532-20305533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539779543	chr17:20305552-20305553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558172498	chr17:20305653-20305654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113584450	chr17:20305745-20305746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550023597	chr17:20314671-20314672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568271104	chr17:20314682-20314683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148897983	chr17:20314684-20314685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553875217	chr17:20314698-20314699	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	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20304000-20304800	Enhancers	NHEK	skin
2	chr17:20304800-20305600	Weak transcription	NHEK	skin
3	chr17:20305600-20305800	Enhancers	NHEK	skin
4	chr17:20314600-20337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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