Variant report

Variant	rs57124495
Chromosome Location	chr13:49370358-49370359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1025236	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11148120	0.86[ASN][1000 genomes]
rs11619503	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12429873	0.82[ASN][1000 genomes]
rs12583213	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12583426	0.95[EUR][1000 genomes]
rs12585139	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17072194	0.83[AFR][1000 genomes]
rs57850097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73480207	0.86[ASN][1000 genomes]
rs73480217	0.86[ASN][1000 genomes]
rs73480223	0.81[AFR][1000 genomes]
rs73480257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73482295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73482300	0.87[AFR][1000 genomes]
rs73484304	0.84[AFR][1000 genomes]
rs746030	0.93[ASN][1000 genomes]
rs7994259	0.86[AFR][1000 genomes]
rs7999498	0.93[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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49366800-49370600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:49366800-49371200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:49366800-49371400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:49366800-49371400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:49366800-49371400	Weak transcription	Hela-S3	cervix
6	chr13:49366800-49374800	Weak transcription	NHDF-Ad	bronchial
7	chr13:49366800-49383000	Weak transcription	Osteobl	bone
8	chr13:49367000-49371400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:49368600-49370400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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