Variant report

Variant	nsv960546
Chromosome Location	chr17:20603359-20610812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20610050..20610947-chr17:30454022..30454629,2	Hela-S3	cervix:

Extended variants
information (count: 344 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116351957	chr17:20603378-20603379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199728916	chr17:20603417-20603418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551436952	chr17:20603425-20603426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143221213	chr17:20603466-20603467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151280860	chr17:20603467-20603468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115653857	chr17:20603476-20603477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141677866	chr17:20603491-20603492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188217208	chr17:20603530-20603531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546869231	chr17:20603555-20603556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6587080	chr17:20603563-20603564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111382740	chr17:20603576-20603577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7212833	chr17:20603604-20603605	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556888625	chr17:20603663-20603664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568930912	chr17:20603664-20603665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147010143	chr17:20603700-20603701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554802176	chr17:20603717-20603718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373570366	chr17:20603728-20603729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377695395	chr17:20603741-20603742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559284538	chr17:20603773-20603774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568669943	chr17:20603775-20603776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544925369	chr17:20603791-20603792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192502784	chr17:20603793-20603794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530456796	chr17:20603807-20603808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370317168	chr17:20603812-20603813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542683228	chr17:20603822-20603823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560866315	chr17:20603823-20603824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528279746	chr17:20603830-20603831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112927710	chr17:20603864-20603865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556761564	chr17:20603875-20603876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7218913	chr17:20603876-20603877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200141905	chr17:20603877-20603878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193288634	chr17:20603878-20603879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532245075	chr17:20603879-20603880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550475117	chr17:20603884-20603885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568898562	chr17:20603908-20603909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536280095	chr17:20604001-20604002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9909650	chr17:20604005-20604006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374847678	chr17:20604007-20604008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9907122	chr17:20604008-20604009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9909821	chr17:20604017-20604018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs8074255	chr17:20604036-20604037	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9909029	chr17:20604080-20604081	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9907357	chr17:20604085-20604086	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7217644	chr17:20604149-20604150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556552884	chr17:20604194-20604195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375278275	chr17:20604201-20604202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575173508	chr17:20604216-20604217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542298585	chr17:20604225-20604226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368417022	chr17:20604239-20604240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139698905	chr17:20604259-20604260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

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
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20601000-20603400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr17:20601400-20604200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:20601600-20603400	Enhancers	Fetal Thymus	thymus
4	chr17:20601600-20603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:20601600-20604800	Enhancers	HMEC	breast
6	chr17:20601800-20603400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr17:20601800-20603400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:20602200-20603800	Enhancers	GM12878-XiMat	blood
9	chr17:20602200-20604000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr17:20602200-20604200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:20602200-20604200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr17:20602200-20607400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:20602400-20604200	Enhancers	Primary B cells from peripheral blood	blood
14	chr17:20602400-20608400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:20602600-20604600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:20603000-20608200	Weak transcription	Thymus	Thymus
17	chr17:20603200-20603400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:20603200-20604600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:20603400-20607200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:20603600-20605000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:20603800-20608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr17:20604000-20608400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:20604200-20606800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr17:20604200-20608400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:20604600-20606200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr17:20606000-20608200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr17:20606200-20606600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr17:20606800-20607400	Enhancers	Primary B cells from peripheral blood	blood
29	chr17:20607200-20607400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr17:20607400-20607800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:20607800-20608800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:20608200-20608400	Enhancers	Thymus	Thymus
33	chr17:20608200-20609400	Enhancers	Primary hematopoietic stem cells	blood
34	chr17:20608400-20608800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:20608400-20609200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:20608400-20609200	Weak transcription	Thymus	Thymus
37	chr17:20608400-20609400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr17:20608600-20609000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:20608800-20610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:20609200-20609600	Enhancers	Fetal Thymus	thymus
41	chr17:20609400-20609600	Enhancers	Thymus	Thymus
42	chr17:20609400-20614800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:20610000-20610200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:20610000-20610200	Active TSS	NHEK	skin
45	chr17:20610200-20610400	Active TSS	Duodenum Mucosa	Duodenum
46	chr17:20610200-20610600	Enhancers	Placenta	Placenta
47	chr17:20610200-20610600	Active TSS	Rectal Smooth Muscle	rectum
48	chr17:20610200-20610600	Flanking Active TSS	NHEK	skin
49	chr17:20610200-20610800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr17:20610200-20610800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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