Variant report

Variant	nsv971025
Chromosome Location	chr7:64566708-64568405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78797474	chr7:64566715-64566716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531546536	chr7:64566725-64566726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375003829	chr7:64566751-64566752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76396121	chr7:64566764-64566765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200616161	chr7:64566778-64566779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73369181	chr7:64566794-64566795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71049107	chr7:64566809-64566810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199552402	chr7:64566818-64566819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112258976	chr7:64566820-64566821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577369823	chr7:64566821-64566822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377198158	chr7:64566823-64566824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370417774	chr7:64566827-64566828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140425344	chr7:64566874-64566875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568007776	chr7:64566885-64566886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200669799	chr7:64566890-64566891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533569463	chr7:64566895-64566896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114400730	chr7:64566937-64566938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114968207	chr7:64566943-64566944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540024323	chr7:64566945-64566946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144271327	chr7:64566957-64566958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576808542	chr7:64566966-64566967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542465832	chr7:64566998-64566999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555798640	chr7:64566999-64567000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368002018	chr7:64567005-64567006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184691943	chr7:64567066-64567067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541093185	chr7:64567073-64567074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564223853	chr7:64567085-64567086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11975040	chr7:64567100-64567101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200180633	chr7:64567191-64567192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3962297	chr7:64567197-64567198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201142396	chr7:64567226-64567227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3981939	chr7:64567238-64567239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545590523	chr7:64567243-64567244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562295575	chr7:64567251-64567252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371539584	chr7:64567262-64567263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531416020	chr7:64567264-64567265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373082708	chr7:64567278-64567279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201622353	chr7:64567284-64567285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200155512	chr7:64567342-64567343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200091961	chr7:64567363-64567364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201205153	chr7:64567373-64567374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187369458	chr7:64567374-64567375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370399879	chr7:64567382-64567383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148968982	chr7:64567389-64567390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201192280	chr7:64567402-64567403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142705666	chr7:64567403-64567404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368125501	chr7:64567427-64567428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370792783	chr7:64567430-64567431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375178066	chr7:64567458-64567459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368539267	chr7:64567459-64567460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Hodgkin''s lymphoma	17606441	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64542000-64571000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:64542200-64567000	Weak transcription	Right Ventricle	heart
3	chr7:64542200-64568200	Weak transcription	Adipose Nuclei	Adipose
4	chr7:64542400-64573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:64550400-64566800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:64553600-64567200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:64562000-64568200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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