Variant report

Variant	rs1983208
Chromosome Location	chr3:161754109-161754110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1033057	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1154807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510344	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834133	0.90[ASN][1000 genomes]
rs16847297	0.93[ASN][1000 genomes]
rs1858240	0.93[ASN][1000 genomes]
rs2089738	0.93[ASN][1000 genomes]
rs4333097	0.93[ASN][1000 genomes]
rs4856664	0.83[ASN][1000 genomes]
rs4856667	0.86[ASN][1000 genomes]
rs57628918	0.86[ASN][1000 genomes]
rs58618482	0.86[ASN][1000 genomes]
rs59539229	0.83[ASN][1000 genomes]
rs59872885	0.90[ASN][1000 genomes]
rs60022403	0.93[ASN][1000 genomes]
rs60886133	0.93[ASN][1000 genomes]
rs6779506	0.93[ASN][1000 genomes]
rs73014613	0.93[ASN][1000 genomes]
rs73014673	0.93[ASN][1000 genomes]
rs73030496	0.86[ASN][1000 genomes]
rs73032205	0.90[ASN][1000 genomes]
rs7620145	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625559	0.93[ASN][1000 genomes]
rs7628078	0.93[ASN][1000 genomes]
rs7647638	0.93[ASN][1000 genomes]
rs962873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9826218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850826	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9884026	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs993595	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
2	nsv460918	chr3:161754109-161791399	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
3	nsv592143	chr3:161754109-161791399	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1983208	SMC4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161750200-161759000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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