Variant report

Variant	rs2446984
Chromosome Location	chr12:49271702-49271703
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10747556	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs10783287	0.86[AMR][1000 genomes]
rs10875883	0.95[GIH][hapmap];0.81[MEX][hapmap]
rs11168769	0.84[ASN][1000 genomes]
rs2132202	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2446983	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2446985	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2446986	0.82[AMR][1000 genomes]
rs2446999	0.80[AMR][1000 genomes]
rs2453474	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2926801	0.83[ASN][1000 genomes]
rs2926805	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2926806	0.95[CHD][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs2934998	0.89[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes]
rs2934999	0.84[JPT][hapmap]
rs3104163	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3958875	0.82[AMR][1000 genomes]
rs833483	0.95[CHD][hapmap];0.80[GIH][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469373	chr12:49256792-49285390	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	nsv558832	chr12:49256792-49285390	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2446984	FKBP11	cis	parietal	SCAN
rs2446984	SLC48A1	cis	parietal	SCAN
rs2446984	CCDC65	cis	Esophagus Muscularis	GTEx
rs2446984	FKBP11	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49271400-49275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:49271400-49278200	Enhancers	Liver	Liver
3	chr12:49271600-49272000	Weak transcription	HepG2	liver
4	chr12:49271600-49274000	Weak transcription	A549	lung

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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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