Variant report

Variant	esv3478150
Chromosome Location	chr7:7106815-7108573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr7:7108235-7108611	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000263504	TF binding region
ENSG00000266121	TF binding region
ENSG00000264679	TF binding region
ENSG00000266409	TF binding region
MIR3683	TF binding region
ENSG00000265155	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2965467	chr7:7108261-7108262	Inactive region	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575799147	chr7:7108267-7108268	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
3	rs562300111	chr7:7108282-7108283	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
4	rs561268892	chr7:7108291-7108292	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
5	rs190967894	chr7:7108300-7108301	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
6	rs62451763	chr7:7108303-7108304	Inactive region	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142350885	chr7:7108350-7108351	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
8	rs183370436	chr7:7108398-7108399	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
9	rs145787352	chr7:7108411-7108412	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
10	rs375002660	chr7:7108429-7108430	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
11	rs551546200	chr7:7108436-7108437	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
12	rs148953224	chr7:7108449-7108450	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
13	rs536752940	chr7:7108501-7108502	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
14	rs557077945	chr7:7108515-7108516	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
15	rs62451764	chr7:7108519-7108520	Inactive region	TF binding region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145453208	chr7:7108520-7108521	Inactive region	TF binding region	5 gene(s)	Overlapped CNVs	n/a
17	rs186605754	chr7:7108538-7108539	Inactive region	TF binding region	6 gene(s)	Overlapped CNVs	n/a
18	rs2965469	chr7:7108545-7108546	Inactive region	TF binding region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs201333469	chr7:7108561-7108562	Inactive region	TF binding region	6 gene(s)	Overlapped CNVs	n/a
20	rs113467491	chr7:7108563-7108564	Inactive region	TF binding region	6 gene(s)	Overlapped CNVs	n/a
21	rs538901181	chr7:7108573-7108574	Inactive region	TF binding region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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