Variant report

Variant	esv3323495
Chromosome Location	chr4:59872257-59875655
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	JUND	chr4:59872413-59872424	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr4:59873165-59873426	HepG2	liver:	n/a	chr4:59873310-59873319
3	POLR2A	chr4:59875467-59875659	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr4:59874148-59874333	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr4:59872747-59872916	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr4:59875277-59875477	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000251266	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538586054	chr4:59875294-59875295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs553817500	chr4:59875322-59875323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149180859	chr4:59875333-59875334	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs572340380	chr4:59875426-59875427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542980388	chr4:59875446-59875447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs75655390	chr4:59875447-59875448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576236775	chr4:59875452-59875453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs73192878	chr4:59875460-59875461	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565340304	chr4:59875464-59875465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs532514554	chr4:59875495-59875496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs138939089	chr4:59875501-59875502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559350393	chr4:59875525-59875526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs74355602	chr4:59875548-59875549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs114354797	chr4:59875566-59875567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs756216	chr4:59875570-59875571	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531084697	chr4:59875580-59875581	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs370115004	chr4:59875624-59875625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529414094	chr4:59875625-59875626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs547171436	chr4:59875640-59875641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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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