Variant report

Variant	rs160803
Chromosome Location	chr2:32056297-32056298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10439444	0.87[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap]
rs1090825	0.82[EUR][1000 genomes]
rs1090828	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12475443	0.85[EUR][1000 genomes]
rs1272585	0.88[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs160797	0.87[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs160801	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes]
rs160804	0.93[ASN][1000 genomes]
rs160805	0.93[ASN][1000 genomes]
rs223621	0.94[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs223649	0.84[ASN][1000 genomes]
rs223665	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2366297	0.88[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.81[EUR][1000 genomes]
rs28797569	0.92[ASN][1000 genomes]
rs41280625	0.80[EUR][1000 genomes]
rs6752375	0.83[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs806584	0.84[EUR][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs160803	RASGRP3	cis	parietal	SCAN
rs160803	NLRC4	cis	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32054400-32080000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:32054600-32067800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:32054600-32090400	Weak transcription	HSMM	muscle
4	chr2:32055000-32056800	Weak transcription	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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