Variant report

Variant	esv2559894
Chromosome Location	chr17:60386340-60387836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60387132..60388706-chr17:60393027..60395897,2	K562	blood:
2	chr17:60376068..60377977-chr17:60387444..60389081,2	MCF-7	breast:
3	chr17:60387371..60389325-chr17:60391804..60394700,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574329967	chr17:60386613-60386614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544989132	chr17:60386628-60386629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542685590	chr17:60386647-60386648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193092343	chr17:60386673-60386674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553424725	chr17:60386686-60386687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573461196	chr17:60386692-60386693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368896067	chr17:60386801-60386802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184159250	chr17:60386803-60386804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146320326	chr17:60386822-60386823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187543034	chr17:60386847-60386848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62069149	chr17:60386860-60386861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79510651	chr17:60386876-60386877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76391785	chr17:60386902-60386903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571912590	chr17:60386908-60386909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529096601	chr17:60386912-60386913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147871336	chr17:60386938-60386939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577191868	chr17:60386949-60386950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34042140	chr17:60386950-60386951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397805792	chr17:60386961-60386962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191332955	chr17:60386965-60386966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565854981	chr17:60386982-60386983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552010754	chr17:60386983-60386984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570451684	chr17:60387004-60387005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183869164	chr17:60387020-60387021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188547410	chr17:60387054-60387055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191858786	chr17:60387083-60387084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185169037	chr17:60387107-60387108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536875910	chr17:60387118-60387119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1512443	chr17:60387128-60387129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79525570	chr17:60387133-60387134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545644666	chr17:60387184-60387185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558686750	chr17:60387195-60387196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141584270	chr17:60387198-60387199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544570595	chr17:60387226-60387227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs544193226	chr17:60387237-60387238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561072185	chr17:60387261-60387262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs8081369	chr17:60387278-60387279	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs56183900	chr17:60387287-60387288	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190360200	chr17:60387290-60387291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182041860	chr17:60387303-60387304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539870669	chr17:60387335-60387336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs185754466	chr17:60387395-60387396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528265007	chr17:60387410-60387411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs71375843	chr17:60387414-60387415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530550099	chr17:60387416-60387417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs550580242	chr17:60387417-60387418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs71375844	chr17:60387418-60387419	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567383804	chr17:60387424-60387425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371817161	chr17:60387426-60387427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs202240759	chr17:60387427-60387428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60386600-60387200	Enhancers	NHEK	skin
2	chr17:60387200-60387600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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