Variant report

Variant	nsv970547
Chromosome Location	chr7:84657259-84658968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142580864	chr7:84657272-84657273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565906920	chr7:84657294-84657295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374497150	chr7:84657298-84657299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370695707	chr7:84657301-84657302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188119183	chr7:84657313-84657314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570051322	chr7:84657330-84657331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562945859	chr7:84657331-84657332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549117865	chr7:84657344-84657345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567865227	chr7:84657352-84657353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73713926	chr7:84657364-84657365	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs553862191	chr7:84657385-84657386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368717262	chr7:84657414-84657415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539459760	chr7:84657418-84657419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146900149	chr7:84657422-84657423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77198092	chr7:84657500-84657501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543748812	chr7:84657505-84657506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139318592	chr7:84657507-84657508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573800944	chr7:84657530-84657531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541144324	chr7:84657552-84657553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141873635	chr7:84657597-84657598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533161173	chr7:84657599-84657600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28449647	chr7:84657653-84657654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60161761	chr7:84657683-84657684	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531078055	chr7:84657692-84657693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549289875	chr7:84657693-84657694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73713927	chr7:84657700-84657701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569701325	chr7:84657701-84657702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74548966	chr7:84657717-84657718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61589019	chr7:84657719-84657720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567740644	chr7:84657722-84657723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535259161	chr7:84657724-84657725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547167779	chr7:84657783-84657784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373623914	chr7:84657839-84657840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565815053	chr7:84657856-84657857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182399251	chr7:84657899-84657900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557746888	chr7:84657900-84657901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78969478	chr7:84657906-84657907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116333383	chr7:84657926-84657927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555660996	chr7:84657946-84657947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573738576	chr7:84657990-84657991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12707697	chr7:84658047-84658048	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559587199	chr7:84658084-84658085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578009369	chr7:84658121-84658122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545105803	chr7:84658128-84658129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148087677	chr7:84658144-84658145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187397499	chr7:84658159-84658160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376187226	chr7:84658230-84658231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141889383	chr7:84658278-84658279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190586320	chr7:84658283-84658284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561669186	chr7:84658331-84658332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84644600-84662600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:84655000-84661000	Weak transcription	Aorta	Aorta
3	chr7:84655000-84673600	Weak transcription	Fetal Brain Male	brain
4	chr7:84655600-84666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:84655600-84667800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:84655800-84660400	Weak transcription	NH-A	brain
7	chr7:84656200-84694800	Weak transcription	Fetal Stomach	stomach
8	chr7:84657200-84659000	Strong transcription	Fetal Lung	lung

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