Variant report

Variant	rs5014650
Chromosome Location	chr6:161099503-161099504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12523781	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525588	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526465	1.00[ASN][1000 genomes]
rs12529361	1.00[ASN][1000 genomes]
rs1358753	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1358754	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17557261	1.00[ASN][1000 genomes]
rs1998043	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998044	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998045	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115868	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269844	1.00[ASN][1000 genomes]
rs41269878	1.00[ASN][1000 genomes]
rs4252051	1.00[ASN][1000 genomes]
rs4252052	1.00[ASN][1000 genomes]
rs4252053	1.00[ASN][1000 genomes]
rs4348293	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56090213	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758766	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759633	1.00[ASN][1000 genomes]
rs9456575	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457992	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9457993	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457997	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9457998	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458002	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458003	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458004	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458009	0.93[CEU][hapmap];1.00[JPT][hapmap];0.88[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	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv605005	chr6:161069941-161152449	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5014650	OR51G1	trans	parietal	SCAN
rs5014650	SLC22A2	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161087600-161100200	Weak transcription	Right Atrium	heart
2	chr6:161099400-161099600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:161099400-161100000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:161099400-161100000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:161099400-161100600	Flanking Active TSS	Liver	Liver

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