Variant report

Variant	rs11637630
Chromosome Location	chr15:78899719-78899720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12593950	0.83[EUR][1000 genomes]
rs12910984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13329271	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1700006	0.84[EUR][1000 genomes]
rs2456020	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28534575	0.81[EUR][1000 genomes]
rs28669908	0.84[EUR][1000 genomes]
rs28681284	0.88[EUR][1000 genomes]
rs3743078	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3825845	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4887069	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs518425	0.80[CEU][hapmap]
rs569207	0.94[CEU][hapmap];0.83[CHB][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs576982	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs578776	0.89[CEU][hapmap]
rs637137	0.88[CEU][hapmap];0.82[CHB][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6495308	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6495309	0.94[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs667282	0.94[CEU][hapmap];0.83[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7170068	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7171869	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7173514	0.82[AMR][1000 genomes]
rs7177514	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7183604	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7359276	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8042059	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8042374	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8042494	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8043009	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs905739	0.85[AMR][1000 genomes]
rs938682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11637630	CHRNA5	cis	Muscle Skeletal	GTEx
rs11637630	RP11-650L12.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78884400-78901000	Strong transcription	Thymus	Thymus
2	chr15:78894200-78900200	Weak transcription	Fetal Stomach	stomach
3	chr15:78894200-78910600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:78896600-78908800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:78898600-78906200	Weak transcription	Fetal Thymus	thymus

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