Variant report

Variant	esv3370332
Chromosome Location	chr7:65489217-65491915
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	chr7:65480450..65482731-chr7:65488116..65489890,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs392355	chr7:65489231-65489232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553634757	chr7:65489253-65489254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12698512	chr7:65489259-65489260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs181224187	chr7:65489287-65489288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537253288	chr7:65489291-65489292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550634839	chr7:65489310-65489311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199926761	chr7:65489331-65489332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536227160	chr7:65489347-65489348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62467387	chr7:65489348-65489349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs576009350	chr7:65489370-65489371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572300183	chr7:65489379-65489380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113600421	chr7:65489409-65489410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558041188	chr7:65489415-65489416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186370370	chr7:65489485-65489486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188374777	chr7:65489490-65489491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563356236	chr7:65489501-65489502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148250369	chr7:65489504-65489505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542643023	chr7:65489600-65489601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs401176	chr7:65489642-65489643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs78948173	chr7:65489653-65489654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376839865	chr7:65489678-65489679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551744324	chr7:65489748-65489749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141242219	chr7:65489765-65489766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530972427	chr7:65489824-65489825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550793934	chr7:65489866-65489867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180688033	chr7:65489935-65489936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536393056	chr7:65489957-65489958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546962933	chr7:65489958-65489959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186560297	chr7:65489970-65489971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77735274	chr7:65489985-65489986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557739964	chr7:65490007-65490008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150765298	chr7:65490008-65490009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537221844	chr7:65490040-65490041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557240838	chr7:65490097-65490098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544507728	chr7:65490108-65490109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562817535	chr7:65490109-65490110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542706274	chr7:65490123-65490124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111659162	chr7:65490178-65490179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559404040	chr7:65490179-65490180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191021147	chr7:65490228-65490229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538154766	chr7:65490253-65490254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545007910	chr7:65490276-65490277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541293820	chr7:65490277-65490278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565420926	chr7:65490336-65490337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115440922	chr7:65490346-65490347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544396734	chr7:65490370-65490371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374457703	chr7:65490394-65490395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561538047	chr7:65490407-65490408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530435194	chr7:65490418-65490419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561186154	chr7:65490494-65490495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65486800-65489600	Weak transcription	Pancreas	Pancrea
2	chr7:65489000-65497400	Weak transcription	Liver	Liver
3	chr7:65491000-65493200	Weak transcription	Lung	lung

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