Variant report

Variant	esv10513
Chromosome Location	chr17:19791123-19798915
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	chr17:19770311..19772498-chr17:19797412..19799362,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPECC1-4	chr17:19798712-19799489	NONHSAT146532

Variant related genes	Relation type
ENSG00000083290	chromatin interactions

Extended variants
information (count: 298 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529953671	chr17:19791125-19791126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564542928	chr17:19791139-19791140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148456478	chr17:19791143-19791144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557929062	chr17:19791167-19791168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202127726	chr17:19791172-19791173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538864843	chr17:19791266-19791267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113289202	chr17:19791268-19791269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192392350	chr17:19791321-19791322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183999083	chr17:19791384-19791385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113534984	chr17:19791392-19791393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565805765	chr17:19791413-19791414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534674792	chr17:19791414-19791415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554624334	chr17:19791416-19791417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377376205	chr17:19791418-19791419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142642533	chr17:19791444-19791445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187291924	chr17:19791468-19791469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556864759	chr17:19791496-19791497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78983230	chr17:19791501-19791502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12946631	chr17:19791502-19791503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371791681	chr17:19791504-19791505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190785224	chr17:19791535-19791536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183028793	chr17:19791555-19791556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565115949	chr17:19791601-19791602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150979377	chr17:19791605-19791606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140897978	chr17:19791650-19791651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187184328	chr17:19791661-19791662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191640166	chr17:19791693-19791694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182904661	chr17:19791770-19791771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563632884	chr17:19791784-19791785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35730216	chr17:19791831-19791832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76991195	chr17:19791832-19791833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533719394	chr17:19791833-19791834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398070893	chr17:19791854-19791855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532282356	chr17:19791918-19791919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552420284	chr17:19791993-19791994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565848028	chr17:19792017-19792018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541166477	chr17:19792083-19792084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146670327	chr17:19792091-19792092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548262212	chr17:19792143-19792144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568060904	chr17:19792157-19792158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140210801	chr17:19792199-19792200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187695168	chr17:19792267-19792268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570356550	chr17:19792375-19792376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145346647	chr17:19792407-19792408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558735975	chr17:19792422-19792423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572257816	chr17:19792478-19792479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560079857	chr17:19792493-19792494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192667806	chr17:19792516-19792517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs281363	chr17:19792594-19792595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543824703	chr17:19792595-19792596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

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
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
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
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
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19787400-19792800	Weak transcription	Fetal Heart	heart
2	chr17:19792800-19793400	Enhancers	Fetal Heart	heart
3	chr17:19793600-19794800	Enhancers	Placenta	Placenta
4	chr17:19793800-19794800	Enhancers	Liver	Liver
5	chr17:19794400-19794800	Enhancers	Spleen	Spleen
6	chr17:19794600-19794800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:19794800-19800000	Weak transcription	Liver	Liver
8	chr17:19794800-19800800	Weak transcription	Spleen	Spleen
9	chr17:19796200-19796400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:19796400-19809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:19797600-19800400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:19797600-19800600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:19797800-19800400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr17:19798000-19800400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:19798200-19798400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:19798200-19800800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:19798400-19804000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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