Variant report

Variant	rs13196561
Chromosome Location	chr6:100760170-100760171
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11752981	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11759084	0.91[EUR][1000 genomes]
rs13196553	0.91[EUR][1000 genomes]
rs13199764	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13203561	0.84[EUR][1000 genomes]
rs13213230	0.88[EUR][1000 genomes]
rs13217178	0.88[EUR][1000 genomes]
rs17792460	0.83[EUR][1000 genomes]
rs34260097	0.91[EUR][1000 genomes]
rs35536355	0.91[EUR][1000 genomes]
rs6916312	0.88[EUR][1000 genomes]
rs71539015	0.88[EUR][1000 genomes]
rs73760852	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Menarche (age at onset)	25231870	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100758800-100761000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:100759400-100760200	Enhancers	A549	lung
3	chr6:100759600-100760200	Enhancers	HUVEC	blood vessel
4	chr6:100759800-100760400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:100759800-100760600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:100759800-100760800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

Quick Search:

Input of quick search could be:

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

what's new

Quick links