Variant report

Variant	nsv519466
Chromosome Location	chr7:84010005-84010960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs656300	chr7:84010005-84010006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151064137	chr7:84010011-84010012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537179032	chr7:84010015-84010016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555027855	chr7:84010021-84010022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376582776	chr7:84010057-84010058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35226963	chr7:84010072-84010073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551166536	chr7:84010114-84010115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139554860	chr7:84010128-84010129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562534232	chr7:84010174-84010175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577824574	chr7:84010181-84010182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545086988	chr7:84010228-84010229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563669331	chr7:84010230-84010231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530788392	chr7:84010239-84010240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543185841	chr7:84010253-84010254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs667763	chr7:84010273-84010274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528702150	chr7:84010334-84010335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145583746	chr7:84010339-84010340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571985970	chr7:84010345-84010346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190252378	chr7:84010366-84010367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148897748	chr7:84010372-84010373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145612117	chr7:84010392-84010393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536632644	chr7:84010405-84010406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146421220	chr7:84010430-84010431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79963083	chr7:84010432-84010433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368829565	chr7:84010434-84010435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534515572	chr7:84010437-84010438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552712529	chr7:84010449-84010450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6947440	chr7:84010457-84010458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545312815	chr7:84010471-84010472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556968047	chr7:84010492-84010493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140800744	chr7:84010504-84010505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34822336	chr7:84010609-84010610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561380747	chr7:84010678-84010679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528560715	chr7:84010797-84010798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540851190	chr7:84010813-84010814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565502955	chr7:84010823-84010824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144643141	chr7:84010880-84010881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148223843	chr7:84010892-84010893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141221933	chr7:84010898-84010899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566862038	chr7:84010937-84010938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530427599	chr7:84010938-84010939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548529740	chr7:84010947-84010948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12667787	chr7:84010960-84010961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84003400-84013800	Weak transcription	NHDF-Ad	bronchial

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