Variant report

Variant	rs7582772
Chromosome Location	chr2:67814778-67814779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10184721	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187948	0.85[AMR][1000 genomes]
rs10189868	0.85[AMR][1000 genomes]
rs10189870	0.85[AMR][1000 genomes]
rs10204519	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11883783	0.85[AMR][1000 genomes]
rs11898758	0.82[AMR][1000 genomes]
rs11900117	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11904407	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11904581	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12620828	0.87[ASN][1000 genomes]
rs13398669	0.82[AMR][1000 genomes]
rs13398896	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13422158	0.82[AMR][1000 genomes]
rs17034036	0.86[ASN][1000 genomes]
rs2861699	0.86[YRI][hapmap]
rs60347662	0.82[AMR][1000 genomes]
rs6546321	0.86[ASN][1000 genomes]
rs6546323	0.86[YRI][hapmap]
rs6708296	0.86[ASN][1000 genomes]
rs6726761	0.86[ASN][1000 genomes]
rs6749548	0.82[AMR][1000 genomes]
rs6757264	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6760771	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761524	0.82[AMR][1000 genomes]
rs72899995	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72901828	0.82[AMR][1000 genomes]
rs72901866	0.82[AMR][1000 genomes]
rs7559840	0.85[AMR][1000 genomes]
rs7567910	0.82[AMR][1000 genomes]
rs7568300	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7569221	0.85[AMR][1000 genomes]
rs7569836	0.85[AMR][1000 genomes]
rs7570412	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7573396	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7579880	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7583557	0.85[AMR][1000 genomes]
rs7589963	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7594754	0.82[AMR][1000 genomes]
rs7604451	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[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
rs7582772	PITPNC1	trans	lymphoblastoid	seeQTL
rs7582772	GAP43	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67813400-67826400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:67813600-67828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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