Variant report

Variant	esv2560448
Chromosome Location	chr17:16505146-16507051
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	chr17:16503812..16505978-chr17:16569342..16570894,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264359	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62072782	chr17:16505146-16505147	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531968781	chr17:16505169-16505170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551986687	chr17:16505172-16505173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571808609	chr17:16505209-16505210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200598157	chr17:16505213-16505214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199977488	chr17:16505220-16505221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377592812	chr17:16505245-16505246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547864590	chr17:16505359-16505360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567560712	chr17:16505360-16505361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7222622	chr17:16505404-16505405	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs56939506	chr17:16505437-16505438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569113391	chr17:16505438-16505439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114470953	chr17:16505450-16505451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs72835908	chr17:16505502-16505503	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186605249	chr17:16505561-16505562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539946485	chr17:16505648-16505649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs62072783	chr17:16505679-16505680	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530138903	chr17:16505702-16505703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141428828	chr17:16505763-16505764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201725705	chr17:16505818-16505819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150823420	chr17:16505888-16505889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559182952	chr17:16505927-16505928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576798179	chr17:16506007-16506008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139780040	chr17:16506064-16506065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565850276	chr17:16506106-16506107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368520629	chr17:16506121-16506122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565480748	chr17:16506122-16506123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59963458	chr17:16506145-16506146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534811184	chr17:16506146-16506147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144514193	chr17:16506181-16506182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146145761	chr17:16506290-16506291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574382368	chr17:16506298-16506299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57448521	chr17:16506322-16506323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115641028	chr17:16506356-16506357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34704812	chr17:16506374-16506375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550133934	chr17:16506430-16506431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201112990	chr17:16506443-16506444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140708623	chr17:16506445-16506446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137978867	chr17:16506450-16506451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568854547	chr17:16506462-16506463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578028977	chr17:16506549-16506550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2970062	chr17:16506561-16506562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191440216	chr17:16506565-16506566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184695490	chr17:16506605-16506606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28792801	chr17:16506652-16506653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542882616	chr17:16506779-16506780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34159308	chr17:16506792-16506793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553610731	chr17:16506852-16506853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28826699	chr17:16506911-16506912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535908013	chr17:16506912-16506913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:156)

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
Autism	22102821	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16505000-16511600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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