Variant report

Variant	rs2025620
Chromosome Location	chr13:75996681-75996682
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1028793	0.82[ASN][1000 genomes]
rs1105687	0.82[ASN][1000 genomes]
rs1408928	0.82[ASN][1000 genomes]
rs17064386	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2147851	0.93[ASN][1000 genomes]
rs4133440	0.93[ASN][1000 genomes]
rs4280128	0.82[ASN][1000 genomes]
rs4530013	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4576949	0.90[EUR][1000 genomes]
rs4883997	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7321494	0.82[ASN][1000 genomes]
rs7990050	0.82[ASN][1000 genomes]
rs9318344	0.82[ASN][1000 genomes]
rs9530434	0.82[ASN][1000 genomes]
rs9530435	0.93[ASN][1000 genomes]
rs9573539	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75988400-75997000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:75988600-75999800	Weak transcription	K562	blood
3	chr13:75991600-75998200	Weak transcription	Right Ventricle	heart
4	chr13:75991800-75999000	Weak transcription	GM12878-XiMat	blood
5	chr13:75993400-75997800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:75993600-76006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:75993600-76006800	Weak transcription	Hela-S3	cervix
8	chr13:75993600-76011200	Weak transcription	Fetal Lung	lung
9	chr13:75994400-76004600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:75994800-76002200	Weak transcription	HepG2	liver
11	chr13:75995200-75996800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:75995200-75997200	Enhancers	Fetal Heart	heart
13	chr13:75995600-76002000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr13:75995600-76005000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:75996000-75996800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr13:75996200-76001600	Weak transcription	Psoas Muscle	Psoas
17	chr13:75996200-76004600	Weak transcription	Right Atrium	heart
18	chr13:75996400-76002800	Weak transcription	Left Ventricle	heart
19	chr13:75996400-76002800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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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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