Variant report

Variant	rs11691301
Chromosome Location	chr2:172754977-172754978
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11675404	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11678018	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11695630	0.81[EUR][1000 genomes]
rs12991441	0.90[ASN][1000 genomes]
rs13024662	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34137430	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34221876	0.82[EUR][1000 genomes]
rs62182397	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62182402	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62182435	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62182443	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62183760	0.85[EUR][1000 genomes]
rs62183768	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62183773	0.80[AMR][1000 genomes];0.81[EUR][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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172753600-172755200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:172754400-172759600	Weak transcription	Osteobl	bone
3	chr2:172754800-172755200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood

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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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