Variant report

Variant	esv3412074
Chromosome Location	chr17:16725877-16732125
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	chr17:16726027-16726055	LNCaP	prostate:	n/a	n/a
2	CTCF	chr17:16729387-16729492	LNCaP	prostate:	n/a	n/a
3	CTCF	chr17:16728324-16728375	GM13976	blood:	n/a	n/a
4	CTCF	chr17:16728404-16728468	LNCaP	prostate:	n/a	n/a
5	CTCF	chr17:16728574-16728654	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chr17:16726160-16726218	GM20000	blood:	n/a	n/a
7	CTCF	chr17:16728163-16728185	GM10248	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000226145	TF binding region

Extended variants
information (count: 177 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563346037	chr17:16725877-16725878	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2694347	chr17:16725909-16725910	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532427450	chr17:16725912-16725913	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546293644	chr17:16725919-16725920	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs559620920	chr17:16725961-16725962	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs71228406	chr17:16725978-16725979	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2688018	chr17:16725981-16725982	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs533414219	chr17:16726033-16726034	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs150938686	chr17:16726067-16726068	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182643886	chr17:16726068-16726069	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531237069	chr17:16726118-16726119	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550557812	chr17:16726122-16726123	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570479475	chr17:16726130-16726131	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112741252	chr17:16726161-16726162	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539514693	chr17:16726215-16726216	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568331529	chr17:16726234-16726235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs628484	chr17:16726239-16726240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553008328	chr17:16726280-16726281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376798276	chr17:16726297-16726298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs628058	chr17:16726330-16726331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566477674	chr17:16726338-16726339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200072929	chr17:16726396-16726397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535626435	chr17:16726496-16726497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187299887	chr17:16726511-16726512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535661336	chr17:16726538-16726539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147061467	chr17:16726619-16726620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111644245	chr17:16726630-16726631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575149162	chr17:16726634-16726635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544109703	chr17:16726636-16726637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201885410	chr17:16726706-16726707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576847438	chr17:16726776-16726777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553921119	chr17:16726859-16726860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201411950	chr17:16726867-16726868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545913064	chr17:16726874-16726875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71224164	chr17:16727000-16727001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559789327	chr17:16727053-16727054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528625343	chr17:16727084-16727085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542365527	chr17:16727091-16727092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562278985	chr17:16727101-16727102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531197841	chr17:16727102-16727103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551320364	chr17:16727161-16727162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571187764	chr17:16727177-16727178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62074117	chr17:16727197-16727198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62074118	chr17:16727223-16727224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532924026	chr17:16727250-16727251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533788704	chr17:16727326-16727327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535201437	chr17:16727351-16727352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549121072	chr17:16727555-16727556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568725261	chr17:16727588-16727589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56295512	chr17:16727771-16727772	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
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16725200-16726200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr17:16725800-16726000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:16725800-16727000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr17:16726200-16726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:16726800-16727200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:16727000-16727200	Enhancers	HMEC	breast
7	chr17:16727000-16727600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:16727200-16728000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:16728000-16728200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:16728200-16735600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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