Variant report

Variant	rs17002672
Chromosome Location	chr4:78333798-78333799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10000203	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs10021013	0.95[EUR][1000 genomes]
rs10023142	0.82[CEU][hapmap]
rs10025816	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs10031995	0.82[CEU][hapmap]
rs10034168	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs12502190	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs1559121	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs17002568	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs17002574	0.82[CEU][hapmap]
rs17002578	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs17002614	0.88[EUR][1000 genomes]
rs1962027	0.81[EUR][1000 genomes]
rs28408985	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28659994	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2866283	0.95[EUR][1000 genomes]
rs2866286	0.87[EUR][1000 genomes]
rs28715173	0.88[EUR][1000 genomes]
rs28771770	0.81[EUR][1000 genomes]
rs28821633	0.81[EUR][1000 genomes]
rs28822468	0.81[EUR][1000 genomes]
rs28844066	0.81[EUR][1000 genomes]
rs28886989	0.81[EUR][1000 genomes]
rs3886412	0.82[CEU][hapmap]
rs4146559	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs4426805	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs4586976	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4643843	0.82[CEU][hapmap]
rs4859826	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[EUR][1000 genomes]
rs57255185	0.81[EUR][1000 genomes]
rs57851138	0.81[EUR][1000 genomes]
rs6819777	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs6832224	0.81[EUR][1000 genomes]
rs6843981	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs6849731	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs6850445	0.83[EUR][1000 genomes]
rs72857763	0.95[AFR][1000 genomes]
rs72859841	0.81[EUR][1000 genomes]
rs72859843	0.81[EUR][1000 genomes]
rs72859844	0.81[EUR][1000 genomes]
rs7657699	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[TSI][hapmap]
rs9307270	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[CHD][hapmap];0.82[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9994349	1.00[CEU][hapmap];0.88[CHB][hapmap]

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	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv594698	chr4:78291876-78334483	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17002672	SLC16A1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78333400-78336000	Enhancers	Fetal Muscle Leg	muscle

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