Variant report

Variant	rs11954795
Chromosome Location	chr5:127586809-127586810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10042349	1.00[MEX][hapmap]
rs11950276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2279582	1.00[JPT][hapmap]
rs2307109	1.00[JPT][hapmap]
rs34383505	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34525187	0.88[AFR][1000 genomes]
rs55721059	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56029012	1.00[AMR][1000 genomes]
rs59010574	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60418844	1.00[AMR][1000 genomes]
rs73784532	1.00[AMR][1000 genomes]
rs73784540	1.00[AMR][1000 genomes]
rs73784541	1.00[AMR][1000 genomes]
rs73784545	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784558	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784559	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11954795	RAPGEF5	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127585000-127587600	Weak transcription	Fetal Stomach	stomach

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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

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