Variant report

Variant	nsv962376
Chromosome Location	chr17:16697642-16703639
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	chr17:16701275-16701353	A549	lung:	n/a	n/a
2	MYC	chr17:16697480-16697687	K562	blood:	n/a	chr17:16697552-16697563 chr17:16697552-16697563 chr17:16697551-16697564 chr17:16697552-16697563 chr17:16697553-16697562 chr17:16697551-16697566 chr17:16697555-16697562
3	PAX5	chr17:16697730-16697975	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:16700737-16700830	A549	lung:	n/a	n/a
5	POLR2A	chr17:16700730-16700855	A549	lung:	n/a	n/a
6	POU2F2	chr17:16701596-16701990	GM12878	blood:	n/a	n/a
7	POU2F2	chr17:16697532-16697926	GM12878	blood:	n/a	n/a
8	USF1	chr17:16701154-16701416	HepG2	liver:	n/a	chr17:16701319-16701330
9	USF1	chr17:16699827-16699960	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
USP32P1	TF binding region
ENSG00000264729	TF binding region

Extended variants
information (count: 238 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150881316	chr17:16697701-16697702	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs75545764	chr17:16697717-16697718	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs71238967	chr17:16697750-16697751	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376390868	chr17:16697761-16697762	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139348925	chr17:16697768-16697769	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs537067279	chr17:16697771-16697772	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62075089	chr17:16697772-16697773	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369397170	chr17:16697788-16697789	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs550626240	chr17:16697798-16697799	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs149700856	chr17:16697801-16697802	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199776534	chr17:16697819-16697820	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140257521	chr17:16697835-16697836	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200709924	chr17:16697841-16697842	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573400451	chr17:16697848-16697849	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs71238966	chr17:16697856-16697857	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536109282	chr17:16697906-16697907	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs377643229	chr17:16697964-16697965	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555790595	chr17:16697974-16697975	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200556419	chr17:16698078-16698079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575286015	chr17:16698205-16698206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544210143	chr17:16698245-16698246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564096994	chr17:16698281-16698282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577806631	chr17:16698301-16698302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539992026	chr17:16698344-16698345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375917708	chr17:16698506-16698507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529081536	chr17:16698525-16698526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs612758	chr17:16698546-16698547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549231261	chr17:16698582-16698583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562458021	chr17:16698629-16698630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531535218	chr17:16698636-16698637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550540714	chr17:16698661-16698662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570559362	chr17:16698665-16698666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533457764	chr17:16698666-16698667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs601745	chr17:16698667-16698668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1682324	chr17:16698723-16698724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546791703	chr17:16698800-16698801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567011063	chr17:16698844-16698845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535694411	chr17:16698853-16698854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs600857	chr17:16698867-16698868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs600856	chr17:16698872-16698873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555993217	chr17:16698901-16698902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540904636	chr17:16698929-16698930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536774045	chr17:16698941-16698942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554844531	chr17:16698957-16698958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75037924	chr17:16698960-16698961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141138706	chr17:16698972-16698973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs600356	chr17:16699003-16699004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538583798	chr17:16699037-16699038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9897234	chr17:16699050-16699051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577720100	chr17:16699068-16699069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:158)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16689600-16711600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:16690000-16706000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr17:16697600-16698000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr17:16697600-16698000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:16697600-16698000	Enhancers	Duodenum Mucosa	Duodenum
6	chr17:16697600-16698000	Enhancers	A549	lung
7	chr17:16697600-16698000	Enhancers	K562	blood
8	chr17:16697800-16698000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:16698000-16704200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:16698000-16710800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:16698000-16711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:16698800-16705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:16700000-16700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr17:16700200-16708200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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