Variant report

Variant	rs6102693
Chromosome Location	chr20:40775576-40775577
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:31)

rs_ID	r²[population]
rs16986561	0.83[YRI][hapmap]
rs17221067	0.82[CHB][hapmap];0.92[CHD][hapmap];0.80[ASN][1000 genomes]
rs17221137	0.82[CHB][hapmap];0.92[CHD][hapmap];0.80[ASN][1000 genomes]
rs17221326	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[ASN][1000 genomes]
rs17221823	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17312515	0.82[CHB][hapmap];0.92[CHD][hapmap];0.80[ASN][1000 genomes]
rs2903466	0.85[MEX][hapmap]
rs4254560	0.83[YRI][hapmap]
rs4281967	0.82[CHB][hapmap]
rs4383399	0.83[YRI][hapmap]
rs4404341	0.83[YRI][hapmap]
rs4404342	0.83[YRI][hapmap]
rs4482556	0.83[YRI][hapmap]
rs56039253	0.83[EUR][1000 genomes]
rs56284628	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59610476	0.86[ASN][1000 genomes]
rs6016697	0.82[YRI][hapmap]
rs6016698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6030000	0.82[YRI][hapmap]
rs6030001	0.83[YRI][hapmap]
rs6030002	0.83[YRI][hapmap]
rs6030012	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6030014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6093579	0.83[YRI][hapmap]
rs6093580	0.83[YRI][hapmap]
rs6093581	0.89[YRI][hapmap]
rs6102694	0.83[YRI][hapmap]
rs6102696	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114444	0.80[ASN][1000 genomes]
rs73114449	0.86[ASN][1000 genomes]
rs7344075	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6102693	WFDC8	cis	parietal	SCAN
rs6102693	CTNNBL1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40770000-40777400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:40773800-40783800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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