Variant report

Variant	nsv978375
Chromosome Location	chr17:16793492-16801263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:16795055-16795082	GM13976	blood:	n/a	n/a
2	CTCF	chr17:16800221-16800313	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr17:16794226-16794353	MCF-7	breast:	n/a	chr17:16794281-16794299
4	CTCF	chr17:16794301-16794341	MCF-7	breast:	n/a	n/a
5	CTCF	chr17:16797261-16797267	GM10266	blood:	n/a	n/a
6	CTCF	chr17:16794297-16794307	GM10266	blood:	n/a	n/a
7	CTCF	chr17:16794254-16794344	GM19239	blood:	n/a	chr17:16794281-16794299
8	MAX	chr17:16796529-16796720	K562	blood:	n/a	chr17:16796627-16796643
9	MAZ	chr17:16798010-16798210	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:16800160-16800335	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr17:16800346-16800370	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:16800969-16801064	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr17:16796662-16796739	K562	blood:	n/a	n/a
14	REST	chr17:16797126-16797476	H1-hESC	embryonic stem cell:	n/a	n/a
15	REST	chr17:16797112-16797391	H1-hESC	embryonic stem cell:	n/a	n/a
16	SPI1	chr17:16797000-16797189	K562	blood:	n/a	chr17:16797088-16797095

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16797017-16797067	AG09319	gingival:	n/a
2	chr17:16797159-16797209	HRPEpiC	eye:	n/a
3	chr17:16797017-16797067	ECC-1	luminal epithelium:	n/a
4	chr17:16797017-16797067	NHDF-neo	bronchial:	n/a
5	chr17:16797159-16797209	PANC-1	pancreas:	n/a
6	chr17:16797159-16797209	HUVEC	blood vessel:	n/a
7	chr17:16797273-16797323	Hepatocyte	liver:	n/a
8	chr17:16797017-16797067	GM19239	blood:	n/a
9	chr17:16797017-16797067	Hela-S3	cervix:	n/a
10	chr17:16797159-16797209	HRCEpiC	kidney:	n/a
11	chr17:16797017-16797067	HCT-116	colon:	n/a
12	chr17:16797159-16797209	GM12891	blood:	n/a
13	chr17:16797017-16797067	HepG2	liver:	n/a
14	chr17:16797273-16797323	BJ	skin:	n/a
15	chr17:16797273-16797323	NB4	blood:	n/a
16	chr17:16797159-16797209	AG10803	skin:	n/a
17	chr17:16797273-16797323	GM06990	blood:	n/a
18	chr17:16797017-16797067	HIPEpiC	eye:	n/a
19	chr17:16797273-16797323	HIPEpiC	eye:	n/a
20	chr17:16797273-16797323	GM12878	blood:	n/a
21	chr17:16797273-16797323	A549	lung:	n/a
22	chr17:16797159-16797209	A549	lung:	n/a
23	chr17:16797273-16797323	H1-hESC	embryonic stem cell:	embryo
24	chr17:16797273-16797323	AoSMC	blood vessel:	n/a
25	chr17:16797017-16797067	GM12891	blood:	n/a
26	chr17:16797273-16797323	NH-A	brain:	n/a
27	chr17:16797273-16797323	MCF10A-Er-Src	breast:	n/a
28	chr17:16797159-16797209	NHDF-neo	bronchial:	n/a
29	chr17:16797017-16797067	ovcar-3	ovarian:	n/a
30	chr17:16797273-16797323	HepG2	liver:	n/a
31	chr17:16797159-16797209	AG04450	lung:	fetal
32	chr17:16797273-16797323	NT2-D1	testis:	n/a
33	chr17:16797159-16797209	K562	blood:	n/a
34	chr17:16797017-16797067	IMR90	lung:	fetal
35	chr17:16797017-16797067	HL-60	blood:	n/a
36	chr17:16797273-16797323	SKMC	muscle:	n/a
37	chr17:16797159-16797209	MCF10A-Er-Src	breast:	n/a
38	chr17:16797273-16797323	PFSK-1	brain:	n/a
39	chr17:16797017-16797067	RPTEC	kidney:	n/a
40	chr17:16797159-16797209	GM06990	blood:	n/a
41	chr17:16797159-16797209	Caco-2	colon:	n/a
42	chr17:16797273-16797323	HMEC	breast:	n/a
43	chr17:16797273-16797323	LNCaP	prostate:	n/a
44	chr17:16797017-16797067	Jurkat	blood:	n/a
45	chr17:16797159-16797209	SKMC	muscle:	n/a
46	chr17:16797017-16797067	LNCaP	prostate:	n/a
47	chr17:16797017-16797067	U87	brain:	n/a
48	chr17:16797017-16797067	HAEpiC	amniotic membrane:	n/a
49	chr17:16797273-16797323	AG09319	gingival:	n/a
50	chr17:16797017-16797067	GM12878	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF13B-7	chr17:16796512-16796743	NONHSAT146023

No data

Variant related genes	Relation type
ENSG00000265853	TF binding region
ENSG00000265853	CpG island

Extended variants
information (count: 95 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559188479	chr17:16796548-16796549	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs192238712	chr17:16796560-16796561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs539853458	chr17:16796603-16796604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs541690129	chr17:16796633-16796634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs139290559	chr17:16796645-16796646	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs530440808	chr17:16796647-16796648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs6502530	chr17:16796691-16796692	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562990558	chr17:16796694-16796695	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs184659427	chr17:16796713-16796714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs572524503	chr17:16797002-16797003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534872763	chr17:16797034-16797035	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs141188204	chr17:16797040-16797041	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs150304119	chr17:16797061-16797062	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs137887010	chr17:16797064-16797065	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs371743908	chr17:16797082-16797083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143770798	chr17:16797096-16797097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545413925	chr17:16797097-16797098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs542032481	chr17:16797138-16797139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559147462	chr17:16797154-16797155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs528196880	chr17:16797190-16797191	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs34920388	chr17:16797191-16797192	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs570303758	chr17:16797264-16797265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548035049	chr17:16797267-16797268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375043108	chr17:16797288-16797289	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs112524834	chr17:16797299-16797300	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs561967107	chr17:16797312-16797313	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs189746504	chr17:16797352-16797353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs539591572	chr17:16797384-16797385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs550931532	chr17:16797423-16797424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs570044109	chr17:16797448-16797449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539006874	chr17:16797449-16797450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs535806445	chr17:16798045-16798046	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs201223829	chr17:16798073-16798074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs545351309	chr17:16798112-16798113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs572725108	chr17:16798206-16798207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs11286076	chr17:16798207-16798208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs572850033	chr17:16798208-16798209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs564319623	chr17:16799803-16799804	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12945474	chr17:16799820-16799821	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533542616	chr17:16799828-16799829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376153752	chr17:16799850-16799851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370786165	chr17:16799889-16799890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535778551	chr17:16799927-16799928	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs28692797	chr17:16799946-16799947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115225123	chr17:16799953-16799954	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs4494588	chr17:16799956-16799957	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537916723	chr17:16799969-16799970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs4792787	chr17:16800103-16800104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577677290	chr17:16800131-16800132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533948239	chr17:16800149-16800150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	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
Acute myeloid leukemia	17237825	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
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16799800-16800000	Active TSS	Gastric	stomach
2	chr17:16800000-16805400	Weak transcription	Gastric	stomach

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