Variant report

Variant	esv4393
Chromosome Location	chr17:20460028-20460599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr17:20460260-20460566	GM12878	blood:	n/a	n/a
2	PAX5	chr17:20460275-20460617	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20460588-20460638	AG09319	gingival:	n/a
2	chr17:20460588-20460638	NHDF-neo	bronchial:	n/a
3	chr17:20460588-20460638	ProgFib	skin:	n/a
4	chr17:20460588-20460638	MCF10A-Er-Src	breast:	n/a
5	chr17:20460588-20460638	SK-N-MC	brain:	n/a
6	chr17:20460588-20460638	Hela-S3	cervix:	n/a
7	chr17:20460588-20460638	GM19239	blood:	n/a
8	chr17:20460588-20460638	AoSMC	blood vessel:	n/a
9	chr17:20460588-20460638	AG04450	lung:	fetal
10	chr17:20460588-20460638	CMK	blood:	n/a
11	chr17:20460588-20460638	HIPEpiC	eye:	n/a
12	chr17:20460588-20460638	GM12891	blood:	n/a
13	chr17:20460588-20460638	HRE	kidney:	n/a
14	chr17:20460588-20460638	H1-hESC	embryonic stem cell:	embryo
15	chr17:20460588-20460638	SKMC	muscle:	n/a
16	chr17:20460588-20460638	HAEpiC	amniotic membrane:	n/a
17	chr17:20460588-20460638	HCM	heart:	n/a
18	chr17:20460588-20460638	AG10803	skin:	n/a
19	chr17:20460588-20460638	HEK293	kidney:	embryo
20	chr17:20460588-20460638	HCPEpiC	choroid plexus:	n/a
21	chr17:20460588-20460638	Jurkat	blood:	n/a
22	chr17:20460588-20460638	GM12892	blood:	n/a
23	chr17:20460588-20460638	HCT-116	colon:	n/a
24	chr17:20460588-20460638	ECC-1	luminal epithelium:	n/a
25	chr17:20460588-20460638	GM12878	blood:	n/a
26	chr17:20460588-20460638	PrEC	prostate:	n/a
27	chr17:20460588-20460638	A549	lung:	n/a
28	chr17:20460588-20460638	NT2-D1	testis:	n/a
29	chr17:20460588-20460638	K562	blood:	n/a
30	chr17:20460588-20460638	HCF	heart:	n/a
31	chr17:20460588-20460638	T-47D	breast:	n/a
32	chr17:20460588-20460638	PFSK-1	brain:	n/a
33	chr17:20460588-20460638	HUVEC	blood vessel:	n/a
34	chr17:20460588-20460638	Caco-2	colon:	n/a
35	chr17:20460588-20460638	MCF-7	breast:	n/a
36	chr17:20460588-20460638	HRPEpiC	eye:	n/a
37	chr17:20460588-20460638	SK-N-SH	brain:	n/a
38	chr17:20460588-20460638	HMEC	breast:	n/a
39	chr17:20460588-20460638	LNCaP	prostate:	n/a
40	chr17:20460588-20460638	IMR90	lung:	fetal
41	chr17:20460588-20460638	HEEpiC	esophagus:	n/a
42	chr17:20460588-20460638	SAEC	small airway:	n/a
43	chr17:20460588-20460638	AG04449	skin:	fetal
44	chr17:20460588-20460638	RPTEC	kidney:	n/a
45	chr17:20460588-20460638	NB4	blood:	n/a
46	chr17:20460588-20460638	HRCEpiC	kidney:	n/a
47	chr17:20460588-20460638	HepG2	liver:	n/a
48	chr17:20460588-20460638	PANC-1	pancreas:	n/a
49	chr17:20460588-20460638	SK-N-SH_RA	brain:	n/a
50	chr17:20460588-20460638	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
ENSG00000263946	TF binding region
ENSG00000263946	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116884879	chr17:20460261-20460262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs181506559	chr17:20460264-20460265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201302813	chr17:20460282-20460283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs138711766	chr17:20460285-20460286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs553540280	chr17:20460311-20460312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368544320	chr17:20460326-20460327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571943294	chr17:20460339-20460340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546055105	chr17:20460361-20460362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs143015590	chr17:20460366-20460367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs11870436	chr17:20460417-20460418	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543409104	chr17:20460420-20460421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs562113905	chr17:20460433-20460434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529399585	chr17:20460466-20460467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs547947899	chr17:20460469-20460470	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs186579199	chr17:20460512-20460513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533336999	chr17:20460541-20460542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:149)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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