Variant report

Variant	nsv966722
Chromosome Location	chr7:80718235-80723540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80547954..80550171-chr7:80721160..80725136,3	MCF-7	breast:
2	chr7:80716969..80719042-chr7:80721026..80723065,2	K562	blood:
3	chr7:80716969..80719042-chr7:80721026..80723065,2	K562	blood:
4	chr7:80722580..80725248-chr7:80741058..80743556,2	MCF-7	breast:
5	chr7:80550844..80552775-chr7:80722519..80724746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577276460	chr7:80721164-80721165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10245648	chr7:80721165-80721166	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs76802347	chr7:80721201-80721202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528650763	chr7:80721224-80721225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74508544	chr7:80721240-80721241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200884860	chr7:80721257-80721258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562025062	chr7:80721265-80721266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12534374	chr7:80721299-80721300	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550568675	chr7:80721300-80721301	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115328225	chr7:80721396-80721397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533051139	chr7:80721397-80721398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558399610	chr7:80721412-80721413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546375160	chr7:80721438-80721439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566700365	chr7:80721471-80721472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140703395	chr7:80721494-80721495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549170669	chr7:80721519-80721520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569190376	chr7:80721529-80721530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538096240	chr7:80721533-80721534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572171649	chr7:80721550-80721551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189586361	chr7:80721590-80721591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577164159	chr7:80721674-80721675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144970535	chr7:80721686-80721687	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368669918	chr7:80721715-80721716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553174579	chr7:80721769-80721770	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573125530	chr7:80721791-80721792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542043200	chr7:80721803-80721804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540871675	chr7:80721861-80721862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371885322	chr7:80721876-80721877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs180815200	chr7:80721898-80721899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561914132	chr7:80721924-80721925	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376723714	chr7:80722000-80722001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575543970	chr7:80722001-80722002	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs544533397	chr7:80722004-80722005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564156681	chr7:80722012-80722013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374527625	chr7:80722034-80722035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185873516	chr7:80722036-80722037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148989777	chr7:80722089-80722090	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188490601	chr7:80722095-80722096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377197484	chr7:80722102-80722103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528962166	chr7:80722153-80722154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143745567	chr7:80722159-80722160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569024617	chr7:80722273-80722274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181627847	chr7:80722275-80722276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150963375	chr7:80722280-80722281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570856386	chr7:80722361-80722362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78410583	chr7:80722372-80722373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs137980182	chr7:80722402-80722403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553306608	chr7:80722413-80722414	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140752169	chr7:80722423-80722424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371638210	chr7:80722457-80722458	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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