Variant report

Variant	rs2861683
Chromosome Location	chr2:67836507-67836508
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10196304	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10490723	0.95[ASN][1000 genomes]
rs12477088	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12618268	0.90[ASN][1000 genomes]
rs12986714	0.83[ASN][1000 genomes]
rs12987509	0.89[ASN][1000 genomes]
rs12989021	0.89[ASN][1000 genomes]
rs12992403	0.91[ASN][1000 genomes]
rs12993096	0.83[ASN][1000 genomes]
rs12997331	0.89[ASN][1000 genomes]
rs13003698	0.87[ASN][1000 genomes]
rs13005138	0.89[ASN][1000 genomes]
rs13013880	0.89[ASN][1000 genomes]
rs13019532	0.89[ASN][1000 genomes]
rs13021903	0.91[ASN][1000 genomes]
rs13023342	0.89[ASN][1000 genomes]
rs13025342	0.89[ASN][1000 genomes]
rs13025376	0.94[ASN][1000 genomes]
rs13028371	0.94[ASN][1000 genomes]
rs1430786	0.81[ASN][1000 genomes]
rs17033996	0.87[ASN][1000 genomes]
rs2861685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2861691	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34724856	0.86[ASN][1000 genomes]
rs35002785	0.90[ASN][1000 genomes]
rs35179846	0.92[ASN][1000 genomes]
rs35820615	0.90[ASN][1000 genomes]
rs4362542	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4465757	0.81[ASN][1000 genomes]
rs4542832	0.83[ASN][1000 genomes]
rs62156279	0.90[ASN][1000 genomes]
rs6546315	0.89[ASN][1000 genomes]
rs6546319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6731513	0.93[ASN][1000 genomes]
rs6732490	0.87[ASN][1000 genomes]
rs6746168	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6756226	0.86[ASN][1000 genomes]
rs6760893	0.87[ASN][1000 genomes]
rs980226	0.89[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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2861683	PELI1	cis	cerebellum	SCAN
rs2861683	NFU1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67828000-67839400	Weak transcription	Placenta	Placenta

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