Variant report

Variant	rs3091932
Chromosome Location	chr20:40721975-40721976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1883375	0.93[ASW][hapmap];0.92[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1883380	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2076247	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2143004	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2425468	0.89[EUR][1000 genomes]
rs2425469	0.94[ASN][1000 genomes]
rs2425470	1.00[ASN][1000 genomes]
rs2425471	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2425472	0.85[CHB][hapmap];0.80[JPT][hapmap];0.94[ASN][1000 genomes]
rs2425473	0.81[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs2425475	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2866942	0.95[ASN][1000 genomes]
rs2866947	1.00[ASN][1000 genomes]
rs3091600	0.94[ASN][1000 genomes]
rs3091875	0.95[CHB][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs3091889	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092503	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092588	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3092614	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6124415	0.83[ASN][1000 genomes]
rs6130027	0.97[ASN][1000 genomes]
rs7263976	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][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	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	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
3	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3091932	YWHAB	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40712200-40725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr20:40714600-40730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr20:40715800-40757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:40720600-40722600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr20:40721400-40722800	Enhancers	Pancreatic Islets	Pancreatic Islet

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