Variant report

Variant	esv2763158
Chromosome Location	chr17:19777544-19789227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19766743..19768696-chr17:19780331..19782628,2	MCF-7	breast:
2	chr17:19769576..19772563-chr17:19774433..19778145,4	MCF-7	breast:
3	chr17:19756351..19759115-chr17:19776323..19778284,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083290	chromatin interactions

Extended variants
information (count: 456 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35300724	chr17:19777609-19777610	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547538690	chr17:19777612-19777613	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567659198	chr17:19777641-19777642	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561432577	chr17:19777675-19777676	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556130050	chr17:19777729-19777730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575966042	chr17:19777730-19777731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538524347	chr17:19777747-19777748	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs371750311	chr17:19777755-19777756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7217943	chr17:19777769-19777770	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113788017	chr17:19777774-19777775	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186275432	chr17:19777796-19777797	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570994612	chr17:19777821-19777822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527360448	chr17:19777877-19777878	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139361637	chr17:19777903-19777904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189604331	chr17:19777905-19777906	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150048433	chr17:19777926-19777927	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543482532	chr17:19777931-19777932	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9915262	chr17:19777979-19777980	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145343275	chr17:19777999-19778000	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552074651	chr17:19778087-19778088	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs281337	chr17:19778127-19778128	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149228332	chr17:19778130-19778131	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574131176	chr17:19778135-19778136	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12602075	chr17:19778279-19778280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113781790	chr17:19778324-19778325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180826008	chr17:19778345-19778346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186590864	chr17:19778449-19778450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569687252	chr17:19778510-19778511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538565597	chr17:19778532-19778533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368795547	chr17:19778542-19778543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113628910	chr17:19778547-19778548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548840854	chr17:19778560-19778561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376167802	chr17:19778562-19778563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118186609	chr17:19778605-19778606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201874358	chr17:19778621-19778622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534563293	chr17:19778631-19778632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554738478	chr17:19778657-19778658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574617724	chr17:19778676-19778677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190851541	chr17:19778751-19778752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140477004	chr17:19778756-19778757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576872998	chr17:19778757-19778758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183061889	chr17:19778824-19778825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565390431	chr17:19778843-19778844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527978435	chr17:19778851-19778852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142511834	chr17:19778852-19778853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34239994	chr17:19778911-19778912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116515196	chr17:19778913-19778914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561511276	chr17:19778931-19778932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530155947	chr17:19778937-19778938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185955517	chr17:19778948-19778949	Enhancers 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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19771200-19778800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:19771600-19779000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:19771600-19787000	Weak transcription	Gastric	stomach
4	chr17:19771800-19777800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:19771800-19780000	Weak transcription	Pancreas	Pancrea
6	chr17:19774400-19777600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr17:19774400-19779200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:19774800-19778800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr17:19774800-19778800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr17:19775000-19778600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr17:19775200-19778600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:19775200-19778800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr17:19776000-19782200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr17:19776800-19778800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:19776800-19779000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr17:19777200-19777800	Enhancers	Primary T cells from cord blood	blood
17	chr17:19777600-19779800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:19777800-19778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:19777800-19778800	Weak transcription	Primary T cells from cord blood	blood
20	chr17:19778000-19778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:19778600-19779400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:19778600-19780000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr17:19778600-19780000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr17:19778600-19780000	Enhancers	Fetal Thymus	thymus
25	chr17:19778600-19783200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr17:19778800-19779800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:19778800-19780000	Enhancers	Primary T cells from cord blood	blood
28	chr17:19778800-19780000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr17:19778800-19780000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr17:19778800-19780000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:19778800-19781800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:19778800-19782000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:19778800-19782400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:19778800-19783400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr17:19779000-19779200	Weak transcription	Brain Hippocampus Middle	brain
36	chr17:19779000-19779800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr17:19779000-19779800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:19779000-19781200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr17:19779000-19782200	Enhancers	Primary hematopoietic stem cells	blood
40	chr17:19779200-19779400	Enhancers	Brain Hippocampus Middle	brain
41	chr17:19779200-19780000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:19779200-19780000	Enhancers	Dnd41	blood
43	chr17:19779200-19780400	Enhancers	Spleen	Spleen
44	chr17:19779200-19780800	Enhancers	Primary B cells from cord blood	blood
45	chr17:19779200-19781200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr17:19779200-19781200	Enhancers	Thymus	Thymus
47	chr17:19779400-19780400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:19779400-19780600	Weak transcription	Brain Hippocampus Middle	brain
49	chr17:19779600-19780200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr17:19779800-19780400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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