Variant report

Variant	esv3393005
Chromosome Location	chr5:120947653-120951351
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	MAFK	chr5:120951118-120951279	HepG2	liver:	n/a	chr5:120951204-120951215 chr5:120951205-120951216 chr5:120951205-120951216 chr5:120951204-120951220 chr5:120951204-120951215 chr5:120951203-120951217
2	POLR2A	chr5:120950738-120950794	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:120949529-120949559	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:120951134-120951179	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000213661	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556673278	chr5:120950745-120950746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574871865	chr5:120950750-120950751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371879387	chr5:120950757-120950758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10043544	chr5:120950772-120950773	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376540991	chr5:120950789-120950790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570788188	chr5:120951123-120951124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs146359450	chr5:120951130-120951131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs547065995	chr5:120951149-120951150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs139773804	chr5:120951150-120951151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188242215	chr5:120951185-120951186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535944488	chr5:120951231-120951232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554282425	chr5:120951244-120951245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs192680282	chr5:120951270-120951271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	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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