Variant report

Variant	nsv933338
Chromosome Location	chr7:21727146-21730347
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	chr7:21295642..21296533-chr7:21730063..21731012,2	MCF-7	breast:
2	chr7:21724497..21726711-chr7:21726889..21729751,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376741056	chr7:21727157-21727158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112923391	chr7:21727164-21727165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371843030	chr7:21727169-21727170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566107984	chr7:21727178-21727179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62445282	chr7:21727186-21727187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192558526	chr7:21727198-21727199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568521981	chr7:21727204-21727205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528309175	chr7:21727231-21727232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537657362	chr7:21727253-21727254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62445283	chr7:21727271-21727272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575724903	chr7:21727291-21727292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538371865	chr7:21727300-21727301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558099543	chr7:21727334-21727335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571569012	chr7:21727372-21727373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113307465	chr7:21727376-21727377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561239218	chr7:21727406-21727407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574689887	chr7:21727410-21727411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543592221	chr7:21727458-21727459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537302977	chr7:21727480-21727481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184545589	chr7:21727494-21727495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552727773	chr7:21727506-21727507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559750199	chr7:21727547-21727548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554590485	chr7:21727569-21727570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371210039	chr7:21727574-21727575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528503952	chr7:21727590-21727591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548555723	chr7:21727621-21727622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62445284	chr7:21727627-21727628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144587441	chr7:21727643-21727644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551140713	chr7:21727690-21727691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570730432	chr7:21727733-21727734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538310154	chr7:21727748-21727749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558238258	chr7:21727780-21727781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376995176	chr7:21727788-21727789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571659080	chr7:21727802-21727803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73273579	chr7:21727851-21727852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554308080	chr7:21727874-21727875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574659932	chr7:21727938-21727939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79343380	chr7:21727939-21727940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12669737	chr7:21728027-21728028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577127390	chr7:21728033-21728034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188940839	chr7:21728039-21728040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572175245	chr7:21728047-21728048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559891191	chr7:21728097-21728098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528646125	chr7:21728110-21728111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542200993	chr7:21728138-21728139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181837870	chr7:21728180-21728181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531204539	chr7:21728191-21728192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148463409	chr7:21728212-21728213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570670278	chr7:21728247-21728248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528181917	chr7:21728299-21728300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21725000-21729200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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