Variant report

Variant	rs1991753
Chromosome Location	chr3:94655549-94655550
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr3:94654596-94655577	MCF-7	breast:	n/a	n/a
2	FOSL2	chr3:94655041-94655567	MCF-7	breast:	n/a	chr3:94655520-94655534 chr3:94655320-94655330
3	GATA3	chr3:94654617-94655585	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr3:94654450-94655668	MCF-7	breast:	n/a	n/a
5	NR2F2	chr3:94654655-94655611	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
LINC00879	TF binding region
ENSG00000242911	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1017370	0.94[ASN][1000 genomes]
rs10804440	0.94[ASN][1000 genomes]
rs10804441	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10933818	0.86[ASN][1000 genomes]
rs1120672	0.94[ASN][1000 genomes]
rs1120673	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11706789	0.94[ASN][1000 genomes]
rs11710300	0.94[ASN][1000 genomes]
rs11718955	0.90[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs11719000	0.95[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs11918258	0.94[ASN][1000 genomes]
rs11919926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1368193	0.94[ASN][1000 genomes]
rs1432468	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1432469	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1432472	0.88[EUR][1000 genomes]
rs1432473	0.92[ASN][1000 genomes]
rs1529652	0.94[ASN][1000 genomes]
rs1529653	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1529654	0.94[ASN][1000 genomes]
rs1549860	0.99[ASN][1000 genomes]
rs1835872	0.93[ASN][1000 genomes]
rs1897461	0.94[ASN][1000 genomes]
rs1991752	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[ASN][1000 genomes]
rs2116610	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2116611	0.94[ASN][1000 genomes]
rs2370168	0.94[ASN][1000 genomes]
rs28588046	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs300090	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs300301	0.91[ASN][1000 genomes]
rs300305	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs300306	0.91[ASN][1000 genomes]
rs380053	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.95[ASN][1000 genomes]
rs4857128	0.96[ASN][1000 genomes]
rs4857129	0.94[ASN][1000 genomes]
rs4857495	0.88[EUR][1000 genomes]
rs49698	0.91[ASN][1000 genomes]
rs6437515	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6807717	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7622398	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7625912	0.97[ASN][1000 genomes]
rs7626615	0.99[ASN][1000 genomes]
rs7626749	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs7627012	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9714169	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap]
rs9809325	0.94[ASN][1000 genomes]
rs9822197	0.93[ASN][1000 genomes]
rs9822600	0.94[ASN][1000 genomes]
rs9854077	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9857434	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861234	0.94[ASN][1000 genomes]
rs9861368	0.82[ASN][1000 genomes]
rs9880324	0.94[ASN][1000 genomes]
rs991552	0.94[ASN][1000 genomes]
rs997528	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv965188	chr3:94655270-94656575	Active TSS Enhancers Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1991753	OR5K2	cis	cerebellum	SCAN
rs1991753	OR5H6	cis	cerebellum	SCAN
rs1991753	OR5K1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94654400-94655600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:94654600-94655600	Enhancers	Hela-S3	cervix
3	chr3:94654800-94655600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:94655400-94655600	Enhancers	K562	blood

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