Variant report

Variant	nsv523811
Chromosome Location	chr7:112295934-112304167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112287931..112290742-chr7:112293869..112296163,2	MCF-7	breast:

Extended variants
information (count: 340 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1989835	chr7:112295934-112295935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76653373	chr7:112295946-112295947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2952690	chr7:112295954-112295955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116175671	chr7:112295960-112295961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542884048	chr7:112295988-112295989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5886630	chr7:112296017-112296018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542685574	chr7:112296051-112296052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554946205	chr7:112296052-112296053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573499893	chr7:112296078-112296079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540882060	chr7:112296107-112296108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565482607	chr7:112296136-112296137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373308068	chr7:112296187-112296188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141013378	chr7:112296248-112296249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71524844	chr7:112296272-112296273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142602710	chr7:112296273-112296274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398047991	chr7:112296285-112296286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545140717	chr7:112296290-112296291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528814658	chr7:112296321-112296322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575817547	chr7:112296323-112296324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544569207	chr7:112296352-112296353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4517054	chr7:112296415-112296416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548748912	chr7:112296494-112296495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190087394	chr7:112296520-112296521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528382978	chr7:112296582-112296583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546439464	chr7:112296606-112296607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145534802	chr7:112296636-112296637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183815038	chr7:112296652-112296653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148823164	chr7:112296673-112296674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143462228	chr7:112296698-112296699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536743392	chr7:112296734-112296735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201265418	chr7:112296771-112296772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7796920	chr7:112296779-112296780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555881028	chr7:112296807-112296808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375211648	chr7:112296810-112296811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573146028	chr7:112296811-112296812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186790137	chr7:112296824-112296825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202221207	chr7:112296887-112296888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559259880	chr7:112296895-112296896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199986880	chr7:112296967-112296968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549844770	chr7:112296987-112296988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111455560	chr7:112297034-112297035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571138540	chr7:112297038-112297039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201430615	chr7:112297039-112297040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144061538	chr7:112297054-112297055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529070025	chr7:112297073-112297074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577596837	chr7:112297087-112297088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369018568	chr7:112297115-112297116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191634852	chr7:112297221-112297222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563068024	chr7:112297228-112297229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111771674	chr7:112297249-112297250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112295200-112301000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:112295400-112305800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:112301600-112301800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:112301800-112302200	Enhancers	Placenta	Placenta
5	chr7:112302400-112302800	Weak transcription	Pancreas	Pancrea
6	chr7:112302800-112303000	ZNF genes & repeats	Pancreas	Pancrea
7	chr7:112302800-112303000	ZNF genes & repeats	Spleen	Spleen
8	chr7:112303000-112308000	Weak transcription	Pancreas	Pancrea

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