Variant report

Variant	esv3417211
Chromosome Location	chr17:20343160-20348058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:20347050-20347179	GM12891	blood:	n/a	n/a
2	CTCF	chr17:20346791-20347248	NHEK	skin:	n/a	n/a
3	CTCF	chr17:20347036-20347188	ProgFib	skin:	n/a	n/a
4	CTCF	chr17:20346940-20347090	GM12873	blood:	n/a	n/a
5	CTCF	chr17:20346820-20347176	K562	blood:	n/a	n/a
6	CTCF	chr17:20346997-20346999	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr17:20346960-20347110	HCM	heart:	n/a	n/a
8	CTCF	chr17:20347342-20347364	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr17:20346920-20347070	GM12870	blood:	n/a	n/a
10	CTCF	chr17:20347028-20347223	Lung_OC	lung:	n/a	n/a
11	CTCF	chr17:20347016-20347189	GM19240	blood:	n/a	n/a
12	CTCF	chr17:20347028-20347199	MCF-7	breast:	n/a	n/a
13	CTCF	chr17:20347057-20347165	GM13977	blood:	n/a	n/a
14	CTCF	chr17:20346980-20347130	SAEC	small airway:	n/a	n/a
15	CTCF	chr17:20346905-20347239	A549	lung:	n/a	n/a
16	CTCF	chr17:20347080-20347197	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr17:20346960-20347110	HMF	breast:	n/a	n/a
18	CTCF	chr17:20347005-20347229	A549	lung:	n/a	n/a
19	CTCF	chr17:20347084-20347205	LNCaP	prostate:	n/a	n/a
20	CTCF	chr17:20345990-20346078	GM13976	blood:	n/a	n/a
21	CTCF	chr17:20346987-20347235	Gliobla	brain:	n/a	n/a
22	CTCF	chr17:20346960-20347110	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr17:20347009-20347201	HepG2	liver:	n/a	n/a
24	CTCF	chr17:20347044-20347209	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr17:20346960-20347110	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr17:20347020-20347202	MCF-7	breast:	n/a	n/a
27	CTCF	chr17:20346859-20347346	A549	lung:	n/a	n/a
28	CTCF	chr17:20346827-20346984	K562	blood:	n/a	n/a
29	CTCF	chr17:20346856-20347362	K562	blood:	n/a	n/a
30	CTCF	chr17:20346936-20347274	A549	lung:	n/a	n/a
31	CTCF	chr17:20347011-20347181	GM12878	blood:	n/a	n/a
32	CTCF	chr17:20344510-20344559	GM13976	blood:	n/a	n/a
33	CTCF	chr17:20347019-20347208	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr17:20347413-20347458	NHEK	skin:	n/a	n/a
35	CTCF	chr17:20347006-20347222	K562	blood:	n/a	n/a
36	CTCF	chr17:20347207-20347213	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr17:20345822-20345907	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr17:20347017-20347208	GM19238	blood:	n/a	n/a
39	CTCF	chr17:20346131-20346270	H1-hESC	embryonic stem cell:	n/a	chr17:20346228-20346237 chr17:20346222-20346240
40	CTCF	chr17:20347093-20347181	GM10266	blood:	n/a	n/a
41	CTCF	chr17:20347000-20347276	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr17:20347069-20347171	GM12892	blood:	n/a	n/a
43	CTCF	chr17:20347111-20347232	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr17:20347032-20347208	MCF-7	breast:	n/a	n/a
45	CTCF	chr17:20347033-20347207	Fibrobl	skin:	n/a	n/a
46	CTCF	chr17:20347015-20347261	LNCaP	prostate:	n/a	n/a
47	CTCF	chr17:20346980-20347130	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr17:20347053-20347167	GM19239	blood:	n/a	n/a
49	CTCF	chr17:20347102-20347148	GM10248	blood:	n/a	n/a
50	CTCF	chr17:20347034-20347232	MCF-7	breast:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20346491-20346541	HEEpiC	esophagus:	n/a
2	chr17:20346491-20346541	HEEpiC	esophagus:	n/a
3	chr17:20346491-20346541	Hepatocyte	liver:	n/a
4	chr17:20346491-20346541	ECC-1	luminal epithelium:	n/a
5	chr17:20346491-20346541	HNPCEpiC	eye:	n/a
6	chr17:20346491-20346541	HCM	heart:	n/a
7	chr17:20346491-20346541	T-47D	breast:	n/a
8	chr17:20346491-20346541	SK-N-SH	brain:	n/a
9	chr17:20346491-20346541	PFSK-1	brain:	n/a
10	chr17:20346491-20346541	AoSMC	blood vessel:	n/a
11	chr17:20346491-20346541	HCT-116	colon:	n/a
12	chr17:20346491-20346541	BE2_C	brain:	n/a
13	chr17:20346491-20346541	NHDF-neo	bronchial:	n/a
14	chr17:20346491-20346541	U87	brain:	n/a
15	chr17:20346491-20346541	Hela-S3	cervix:	n/a
16	chr17:20346491-20346541	ProgFib	skin:	n/a
17	chr17:20346491-20346541	HIPEpiC	eye:	n/a
18	chr17:20346491-20346541	HPAEpiC	pulmonary alveolar:	n/a
19	chr17:20346491-20346541	AG09309	skin:	n/a
20	chr17:20346491-20346541	RPTEC	kidney:	n/a
21	chr17:20346491-20346541	IMR90	lung:	fetal
22	chr17:20346491-20346541	K562	blood:	n/a
23	chr17:20346491-20346541	LNCaP	prostate:	n/a
24	chr17:20346491-20346541	AG04449	skin:	fetal
25	chr17:20346491-20346541	CMK	blood:	n/a
26	chr17:20346491-20346541	HMEC	breast:	n/a
27	chr17:20346491-20346541	HCPEpiC	choroid plexus:	n/a
28	chr17:20346491-20346541	H1-hESC	embryonic stem cell:	embryo
29	chr17:20346491-20346541	PrEC	prostate:	n/a
30	chr17:20346491-20346541	HEK293	kidney:	embryo
31	chr17:20346491-20346541	A549	lung:	n/a
32	chr17:20346491-20346541	HRCEpiC	kidney:	n/a
33	chr17:20346491-20346541	HUVEC	blood vessel:	n/a
34	chr17:20346491-20346541	GM12878	blood:	n/a
35	chr17:20346491-20346541	NB4	blood:	n/a
36	chr17:20346491-20346541	AG09319	gingival:	n/a
37	chr17:20346491-20346541	SKMC	muscle:	n/a
38	chr17:20346491-20346541	HRPEpiC	eye:	n/a
39	chr17:20346491-20346541	AG04450	lung:	fetal
40	chr17:20346491-20346541	NHBE	bronchial:	n/a
41	chr17:20346491-20346541	GM12892	blood:	n/a
42	chr17:20346491-20346541	HAEpiC	amniotic membrane:	n/a
43	chr17:20346491-20346541	SAEC	small airway:	n/a
44	chr17:20346491-20346541	SK-N-SH_RA	brain:	n/a
45	chr17:20346491-20346541	NT2-D1	testis:	n/a
46	chr17:20346491-20346541	HepG2	liver:	n/a
47	chr17:20346491-20346541	HL-60	blood:	n/a
48	chr17:20346491-20346541	GM12891	blood:	n/a
49	chr17:20346491-20346541	GM19239	blood:	n/a
50	chr17:20346491-20346541	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
NOS2P3	TF binding region
NOS2P3	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539588005	chr17:20343440-20343441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs145119439	chr17:20343460-20343461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147721806	chr17:20343463-20343464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139832430	chr17:20343472-20343473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555390681	chr17:20343516-20343517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577709016	chr17:20343817-20343818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs545105636	chr17:20344023-20344024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs563490971	chr17:20344024-20344025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111604958	chr17:20344195-20344196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201698918	chr17:20344272-20344273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561407321	chr17:20344317-20344318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs376585015	chr17:20348029-20348030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20348000-20348200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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