Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr13:52138080-52138573	T-47D	breast:	n/a	n/a
2	GATA3	chr13:52138128-52138447	T-47D	breast:	n/a	n/a
3	GATA3	chr13:52137965-52138862	SK-N-SH	brain:	n/a	chr13:52137972-52137982
4	GATA3	chr13:52138004-52138741	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
RNU6-65P	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1024271	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12428478	0.80[YRI][hapmap]
rs12585249	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17075902	0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs3803201	0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs3825410	0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4075628	0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4625625	0.85[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs4943005	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7328589	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs745374	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9316547	0.87[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9316548	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9316551	0.81[CHB][hapmap]
rs9563063	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9563065	0.88[ASN][1000 genomes]
rs9563066	0.87[ASN][1000 genomes]
rs9563067	0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs9568633	0.89[ASN][1000 genomes]
rs9568644	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs9568650	0.85[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs9805172	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[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	esv1797261	chr13:52100949-52139113	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4941703	CKAP2	cis	cerebellum	SCAN
rs4941703	CKAP2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52131000-52138800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:52133400-52138800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:52137000-52139000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr13:52137800-52139400	Enhancers	Hela-S3	cervix
5	chr13:52138000-52139400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:52138400-52139000	Enhancers	K562	blood

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