Variant report

Variant	nsv970567
Chromosome Location	chr7:102833853-102850992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200488436	chr7:102835411-102835412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560367748	chr7:102835421-102835422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538083968	chr7:102835424-102835425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556485678	chr7:102835460-102835461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183557528	chr7:102835478-102835479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188890477	chr7:102835537-102835538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192226841	chr7:102835538-102835539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553508282	chr7:102835543-102835544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116487593	chr7:102835602-102835603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542339507	chr7:102835650-102835651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3987902	chr7:102835677-102835678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3959204	chr7:102835680-102835681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3959205	chr7:102835683-102835684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34819566	chr7:102835704-102835705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560697925	chr7:102835762-102835763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2411100	chr7:102835781-102835782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529438563	chr7:102835840-102835841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567648650	chr7:102835897-102835898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2898644	chr7:102835898-102835899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576767008	chr7:102835936-102835937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562796546	chr7:102835951-102835952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533479255	chr7:102836000-102836001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568174835	chr7:102836007-102836008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182338872	chr7:102836077-102836078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6948749	chr7:102836078-102836079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566736731	chr7:102836166-102836167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75341923	chr7:102836212-102836213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186636960	chr7:102836342-102836343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567798741	chr7:102836355-102836356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537996182	chr7:102836403-102836404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372133950	chr7:102836427-102836428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191094749	chr7:102836484-102836485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528101004	chr7:102839613-102839614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183241103	chr7:102839655-102839656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369777760	chr7:102839672-102839673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529200104	chr7:102839716-102839717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115515747	chr7:102839721-102839722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58962103	chr7:102839767-102839768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs555226441	chr7:102839794-102839795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57125388	chr7:102839856-102839857	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs62481562	chr7:102839885-102839886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs58621814	chr7:102840050-102840051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397701510	chr7:102840055-102840056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61581136	chr7:102840121-102840122	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs186095256	chr7:102840135-102840136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534748196	chr7:102840151-102840152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553008575	chr7:102840154-102840155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574595093	chr7:102840206-102840207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541596418	chr7:102840222-102840223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62481564	chr7:102840245-102840246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:92)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102835400-102836200	Enhancers	Liver	Liver
2	chr7:102835400-102836600	Enhancers	Hela-S3	cervix
3	chr7:102835800-102836200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:102839600-102840400	Enhancers	K562	blood
5	chr7:102850600-102850800	Weak transcription	Fetal Lung	lung
6	chr7:102850800-102851000	Enhancers	Fetal Lung	lung

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