Variant report

Variant	esv1812465
Chromosome Location	chr17:18295070-18304708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr17:18301531-18301764	GM12878	blood:	n/a	n/a
2	CTCF	chr17:18297859-18297938	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chr17:18297461-18297539	GM10248	blood:	n/a	chr17:18297501-18297509
4	CTCF	chr17:18299751-18299802	GM10248	blood:	n/a	n/a
5	FOSL2	chr17:18296942-18297173	HepG2	liver:	n/a	n/a
6	FOSL2	chr17:18302835-18303033	HepG2	liver:	n/a	n/a
7	FOSL2	chr17:18298583-18298985	HepG2	liver:	n/a	n/a
8	FOSL2	chr17:18297790-18298166	HepG2	liver:	n/a	n/a
9	GABPA	chr17:18295096-18295237	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr17:18300658-18300874	Hela-S3	cervix:	n/a	n/a
11	PAX5	chr17:18299738-18299983	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:18302169-18302275	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr17:18297350-18297613	H1-hESC	embryonic stem cell:	n/a	chr17:18297493-18297502
14	REST	chr17:18302052-18302358	PANC-1	pancreas:	n/a	chr17:18302263-18302276 chr17:18302248-18302261

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18295431-18295481	ECC-1	luminal epithelium:	n/a
2	chr17:18295503-18295553	HRPEpiC	eye:	n/a
3	chr17:18295503-18295553	RPTEC	kidney:	n/a
4	chr17:18295431-18295481	MCF10A-Er-Src	breast:	n/a
5	chr17:18295503-18295553	ovcar-3	ovarian:	n/a
6	chr17:18302510-18302560	NHDF-neo	bronchial:	n/a
7	chr17:18295503-18295553	H1-hESC	embryonic stem cell:	embryo
8	chr17:18295503-18295553	LNCaP	prostate:	n/a
9	chr17:18295503-18295553	HNPCEpiC	eye:	n/a
10	chr17:18302510-18302560	PFSK-1	brain:	n/a
11	chr17:18295503-18295553	HMEC	breast:	n/a
12	chr17:18302510-18302560	Jurkat	blood:	n/a
13	chr17:18295431-18295481	Hela-S3	cervix:	n/a
14	chr17:18295431-18295481	HRE	kidney:	n/a
15	chr17:18295431-18295481	HCPEpiC	choroid plexus:	n/a
16	chr17:18295503-18295553	GM12892	blood:	n/a
17	chr17:18302510-18302560	ECC-1	luminal epithelium:	n/a
18	chr17:18302510-18302560	HCPEpiC	choroid plexus:	n/a
19	chr17:18295503-18295553	HAEpiC	amniotic membrane:	n/a
20	chr17:18302510-18302560	PrEC	prostate:	n/a
21	chr17:18295431-18295481	GM19239	blood:	n/a
22	chr17:18295431-18295481	HCF	heart:	n/a
23	chr17:18295503-18295553	SK-N-MC	brain:	n/a
24	chr17:18302510-18302560	MCF10A-Er-Src	breast:	n/a
25	chr17:18295431-18295481	GM06990	blood:	n/a
26	chr17:18302510-18302560	HEK293	kidney:	embryo
27	chr17:18295431-18295481	HIPEpiC	eye:	n/a
28	chr17:18295431-18295481	SK-N-MC	brain:	n/a
29	chr17:18295431-18295481	Jurkat	blood:	n/a
30	chr17:18295503-18295553	BJ	skin:	n/a
31	chr17:18295431-18295481	IMR90	lung:	fetal
32	chr17:18302510-18302560	GM12892	blood:	n/a
33	chr17:18295503-18295553	A549	lung:	n/a
34	chr17:18295431-18295481	Hepatocyte	liver:	n/a
35	chr17:18302510-18302560	HL-60	blood:	n/a
36	chr17:18302510-18302560	IMR90	lung:	fetal
37	chr17:18295431-18295481	AoSMC	blood vessel:	n/a
38	chr17:18302510-18302560	HIPEpiC	eye:	n/a
39	chr17:18295431-18295481	HRCEpiC	kidney:	n/a
40	chr17:18302510-18302560	AG09309	skin:	n/a
41	chr17:18295503-18295553	U87	brain:	n/a
42	chr17:18295503-18295553	HEEpiC	esophagus:	n/a
43	chr17:18302510-18302560	GM06990	blood:	n/a
44	chr17:18302510-18302560	HEEpiC	esophagus:	n/a
45	chr17:18302510-18302560	RPTEC	kidney:	n/a
46	chr17:18295431-18295481	HUVEC	blood vessel:	n/a
47	chr17:18295431-18295481	GM12891	blood:	n/a
48	chr17:18302510-18302560	SAEC	small airway:	n/a
49	chr17:18295431-18295481	K562	blood:	n/a
50	chr17:18295503-18295553	T-47D	breast:	n/a

No data

Variant related genes	Relation type
TBC1D3P4	TF binding region
ENSG00000264177	TF binding region
TBC1D3P4	CpG island
ENSG00000264177	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 166 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533276775	chr17:18295104-18295105	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs139017848	chr17:18295120-18295121	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs113683412	chr17:18295126-18295127	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs560213603	chr17:18295141-18295142	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs148393270	chr17:18295169-18295170	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs376204260	chr17:18295454-18295455	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
7	rs568890242	chr17:18295475-18295476	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
8	rs75950924	chr17:18295503-18295504	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
9	rs531132932	chr17:18295510-18295511	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
10	rs598295	chr17:18295541-18295542	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
11	rs550936498	chr17:18295544-18295545	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
12	rs531317966	chr17:18297041-18297042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201362423	chr17:18297095-18297096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:166)

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
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
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	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	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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