Variant report

Variant	nsv962384
Chromosome Location	chr17:20568160-20570385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561156904	chr17:20568219-20568220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528442492	chr17:20568311-20568312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs684750	chr17:20568361-20568362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546657057	chr17:20568392-20568393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571650632	chr17:20568409-20568410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs684285	chr17:20568445-20568446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2787046	chr17:20568460-20568461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551028041	chr17:20568489-20568490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71303752	chr17:20568504-20568505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186135471	chr17:20568507-20568508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190663870	chr17:20568508-20568509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2261937	chr17:20568530-20568531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138624281	chr17:20568536-20568537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2619232	chr17:20568561-20568562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58233933	chr17:20568617-20568618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183238268	chr17:20568653-20568654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71371020	chr17:20568661-20568662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544700930	chr17:20568692-20568693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563339417	chr17:20568701-20568702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575445672	chr17:20568766-20568767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542821128	chr17:20568822-20568823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561113491	chr17:20568873-20568874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531251378	chr17:20568878-20568879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201102374	chr17:20568883-20568884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540479322	chr17:20568886-20568887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565035400	chr17:20568995-20568996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532506488	chr17:20568999-20569000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372139215	chr17:20569056-20569057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547772386	chr17:20569063-20569064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561635138	chr17:20569137-20569138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568990477	chr17:20569330-20569331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530183225	chr17:20569369-20569370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548365974	chr17:20569391-20569392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566685226	chr17:20569406-20569407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534134824	chr17:20569415-20569416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559176663	chr17:20569441-20569442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571074970	chr17:20569442-20569443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538612975	chr17:20569451-20569452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527330613	chr17:20569497-20569498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376453264	chr17:20569564-20569565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370000436	chr17:20569676-20569677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547698864	chr17:20569685-20569686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542784036	chr17:20569714-20569715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554712930	chr17:20569724-20569725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570993344	chr17:20569733-20569734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539631717	chr17:20569739-20569740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572945289	chr17:20569763-20569764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540073554	chr17:20569779-20569780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565150154	chr17:20569858-20569859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139074888	chr17:20569860-20569861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Williams Syndrome	20824207	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20568000-20570200	Enhancers	Fetal Intestine Small	intestine
2	chr17:20568200-20568800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr17:20568200-20568800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:20568200-20570200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr17:20568200-20572000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr17:20568400-20568600	Enhancers	Fetal Intestine Large	intestine
7	chr17:20568400-20569600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:20568400-20572000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr17:20568800-20569200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr17:20569000-20570000	Weak transcription	Fetal Intestine Large	intestine
11	chr17:20569200-20569600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr17:20569400-20570200	Enhancers	Placenta	Placenta
13	chr17:20570000-20570400	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links