Variant report

Variant	rs1972018
Chromosome Location	chr12:74997532-74997533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11832914	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836744	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816124	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818780	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832355	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389488	1.00[CHB][hapmap]
rs1493813	1.00[CEU][hapmap]
rs1493820	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113561	1.00[CHB][hapmap]
rs17113703	1.00[CHB][hapmap]
rs17113716	1.00[CHB][hapmap]
rs17113730	1.00[CHB][hapmap]
rs17113736	1.00[CHB][hapmap]
rs17113745	1.00[CHB][hapmap]
rs17113753	1.00[CHB][hapmap]
rs17113865	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113938	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17179283	1.00[CHB][hapmap]
rs17179465	1.00[CHB][hapmap]
rs17772239	1.00[CHB][hapmap]
rs2605349	1.00[CEU][hapmap]
rs2605378	1.00[CHB][hapmap]
rs2613897	1.00[CHB][hapmap]
rs2613898	1.00[CHB][hapmap]
rs2641455	1.00[CEU][hapmap]
rs2641456	1.00[CEU][hapmap]
rs2661710	1.00[CEU][hapmap]
rs2661715	0.98[EUR][1000 genomes]
rs34441990	1.00[ASN][1000 genomes]
rs3905797	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3905798	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3912976	1.00[ASN][1000 genomes]
rs4550284	1.00[CHB][hapmap]
rs4882647	1.00[ASN][1000 genomes]
rs59679678	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71458192	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961062	1.00[ASN][1000 genomes]
rs7976081	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996431	1.00[CEU][hapmap]

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	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1972018	NFIL3	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74994800-74998000	Enhancers	Hela-S3	cervix
2	chr12:74996000-74997800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:74996800-74998200	Enhancers	Stomach Mucosa	stomach

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