Variant report

Variant	nsv962382
Chromosome Location	chr17:20325915-20329867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr17:20326172-20326448	GM12878	blood:	n/a	n/a
2	GATA2	chr17:20325785-20326201	K562	blood:	n/a	chr17:20325991-20326012 chr17:20325985-20325998
3	PAX5	chr17:20326178-20326508	GM12878	blood:	n/a	chr17:20326453-20326463
4	POLR2A	chr17:20327819-20327952	Gliobla	brain:	n/a	n/a
5	POLR2A	chr17:20327877-20327952	A549	lung:	n/a	n/a
6	POU2F2	chr17:20326048-20326581	GM12878	blood:	n/a	n/a
7	USF1	chr17:20328333-20328508	HepG2	liver:	n/a	n/a
8	USF1	chr17:20329702-20329880	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20326541-20326591	HPAEpiC	pulmonary alveolar:	n/a
2	chr17:20326541-20326591	Caco-2	colon:	n/a
3	chr17:20326541-20326591	HCT-116	colon:	n/a
4	chr17:20326541-20326591	Hela-S3	cervix:	n/a
5	chr17:20326541-20326591	HEEpiC	esophagus:	n/a
6	chr17:20326541-20326591	T-47D	breast:	n/a
7	chr17:20326541-20326591	Hepatocyte	liver:	n/a
8	chr17:20326541-20326591	SK-N-SH_RA	brain:	n/a
9	chr17:20326541-20326591	U87	brain:	n/a
10	chr17:20326541-20326591	ProgFib	skin:	n/a
11	chr17:20326541-20326591	RPTEC	kidney:	n/a
12	chr17:20326541-20326591	SKMC	muscle:	n/a
13	chr17:20326541-20326591	LNCaP	prostate:	n/a
14	chr17:20326541-20326591	GM06990	blood:	n/a
15	chr17:20326541-20326591	HUVEC	blood vessel:	n/a
16	chr17:20326541-20326591	SK-N-SH	brain:	n/a
17	chr17:20326541-20326591	HRPEpiC	eye:	n/a
18	chr17:20326541-20326591	HCF	heart:	n/a
19	chr17:20326541-20326591	MCF-7	breast:	n/a
20	chr17:20326541-20326591	GM12878	blood:	n/a
21	chr17:20326541-20326591	A549	lung:	n/a
22	chr17:20326541-20326591	NH-A	brain:	n/a
23	chr17:20326541-20326591	AG09319	gingival:	n/a
24	chr17:20326541-20326591	PFSK-1	brain:	n/a
25	chr17:20326541-20326591	ECC-1	luminal epithelium:	n/a
26	chr17:20326541-20326591	GM12892	blood:	n/a
27	chr17:20326541-20326591	NHDF-neo	bronchial:	n/a
28	chr17:20326541-20326591	HRE	kidney:	n/a
29	chr17:20326541-20326591	AG10803	skin:	n/a
30	chr17:20326541-20326591	HepG2	liver:	n/a
31	chr17:20326541-20326591	Jurkat	blood:	n/a
32	chr17:20326541-20326591	PANC-1	pancreas:	n/a
33	chr17:20326541-20326591	AG04450	lung:	fetal
34	chr17:20326541-20326591	HAEpiC	amniotic membrane:	n/a
35	chr17:20326541-20326591	NHBE	bronchial:	n/a
36	chr17:20326541-20326591	HL-60	blood:	n/a
37	chr17:20326541-20326591	SK-N-MC	brain:	n/a
38	chr17:20326541-20326591	K562	blood:	n/a
39	chr17:20326541-20326591	GM19239	blood:	n/a
40	chr17:20326541-20326591	BJ	skin:	n/a
41	chr17:20326541-20326591	CMK	blood:	n/a
42	chr17:20326541-20326591	NB4	blood:	n/a
43	chr17:20326541-20326591	HIPEpiC	eye:	n/a
44	chr17:20326541-20326591	HCM	heart:	n/a
45	chr17:20326541-20326591	HRCEpiC	kidney:	n/a
46	chr17:20326541-20326591	HMEC	breast:	n/a
47	chr17:20326541-20326591	MCF10A-Er-Src	breast:	n/a
48	chr17:20326541-20326591	ovcar-3	ovarian:	n/a
49	chr17:20326541-20326591	IMR90	lung:	fetal
50	chr17:20326541-20326591	SAEC	small airway:	n/a

No data

Variant related genes	Relation type
USP32P3	TF binding region
USP32P3	CpG island

Extended variants
information (count: 108 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78129752	chr17:20325954-20325955	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs55903118	chr17:20325973-20325974	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529200942	chr17:20326006-20326007	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541379238	chr17:20326014-20326015	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201980685	chr17:20326034-20326035	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533366215	chr17:20326037-20326038	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551556929	chr17:20326050-20326051	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs62066929	chr17:20326105-20326106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368469988	chr17:20326172-20326173	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs2694187	chr17:20326215-20326216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530942587	chr17:20326217-20326218	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs549531819	chr17:20326250-20326251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs111265044	chr17:20326529-20326530	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs144618187	chr17:20326548-20326549	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs1725633	chr17:20326559-20326560	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs534974187	chr17:20326814-20326815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553259961	chr17:20327033-20327034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565286755	chr17:20327122-20327123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539438543	chr17:20327137-20327138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557505120	chr17:20327172-20327173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200676331	chr17:20327195-20327196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62066930	chr17:20327215-20327216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543202428	chr17:20327254-20327255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113030823	chr17:20327334-20327335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555593938	chr17:20327364-20327365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375807820	chr17:20327382-20327383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573890958	chr17:20327425-20327426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1972323	chr17:20327432-20327433	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs559706994	chr17:20327453-20327454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533141173	chr17:20327455-20327456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545369420	chr17:20327575-20327576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563559782	chr17:20327593-20327594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531031477	chr17:20327594-20327595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549105757	chr17:20327596-20327597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567477659	chr17:20327603-20327604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373348809	chr17:20327621-20327622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2694188	chr17:20327637-20327638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546859843	chr17:20327664-20327665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370265462	chr17:20327724-20327725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571594960	chr17:20327794-20327795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111878331	chr17:20327818-20327819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538993983	chr17:20327823-20327824	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557735331	chr17:20327828-20327829	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569593406	chr17:20327839-20327840	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs537109238	chr17:20327879-20327880	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs555504681	chr17:20327906-20327907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573853548	chr17:20327937-20327938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201885060	chr17:20327967-20327968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189547591	chr17:20327980-20327981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569816345	chr17:20327981-20327982	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20314600-20337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20325200-20326000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:20325200-20326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:20325200-20326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:20325600-20326000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr17:20326400-20327200	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:20326800-20336400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:20327400-20334600	Weak transcription	Brain Angular Gyrus	brain
9	chr17:20327600-20327800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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