Variant report

Variant	rs1108689
Chromosome Location	chr3:102041042-102041043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10048914	0.85[CEU][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs1025587	0.89[ASW][hapmap];0.80[YRI][hapmap]
rs10511197	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs10511198	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs11708991	0.80[YRI][hapmap]
rs11927258	0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs13315672	0.85[CEU][hapmap];0.96[YRI][hapmap]
rs13317906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1369350	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs1382787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1435206	0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs1473269	0.81[TSI][hapmap]
rs16844949	0.83[ASW][hapmap]
rs16844969	0.89[ASW][hapmap];0.80[YRI][hapmap]
rs16844993	1.00[CHD][hapmap];0.88[JPT][hapmap]
rs17822656	0.88[JPT][hapmap]
rs2127287	0.80[YRI][hapmap]
rs3891857	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs55891453	0.85[ASN][1000 genomes]
rs62274669	0.83[ASN][1000 genomes]
rs6441658	0.80[YRI][hapmap]
rs6441659	0.80[YRI][hapmap]
rs6441661	0.80[YRI][hapmap]
rs6766223	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap]
rs6768311	0.80[YRI][hapmap]
rs6781453	0.89[ASW][hapmap]
rs6784826	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs6804554	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs73144596	0.81[ASN][1000 genomes]
rs7615419	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7616427	0.83[ASW][hapmap];0.80[YRI][hapmap]
rs7623736	0.89[ASW][hapmap]
rs7636808	0.80[YRI][hapmap]
rs9290704	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs9825736	0.80[YRI][hapmap]
rs9828984	0.89[ASW][hapmap];0.80[YRI][hapmap]
rs9829127	0.80[YRI][hapmap]
rs9835728	0.94[ASW][hapmap];0.80[YRI][hapmap]
rs9843713	0.80[YRI][hapmap]
rs9852572	0.85[CEU][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs985374	0.94[ASW][hapmap];0.83[YRI][hapmap]
rs985376	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9859640	0.82[CEU][hapmap]
rs9861348	0.82[CEU][hapmap]
rs9865839	0.80[YRI][hapmap]
rs9870734	0.85[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]

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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1014077	chr3:102032787-102066539	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1108689	CBLB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102040800-102041600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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