Variant report

Variant	rs72748126
Chromosome Location	chr5:52807817-52807818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10036010	0.87[ASN][1000 genomes]
rs1593053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515477	0.87[ASN][1000 genomes]
rs28708487	0.87[ASN][1000 genomes]
rs28736800	0.87[ASN][1000 genomes]
rs35204933	0.87[ASN][1000 genomes]
rs56129546	0.87[ASN][1000 genomes]
rs62370518	0.92[AFR][1000 genomes]
rs72748120	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72748122	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72748123	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72748124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72748128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750115	0.94[ASN][1000 genomes]
rs72750116	0.94[ASN][1000 genomes]
rs72750118	0.94[ASN][1000 genomes]
rs72750119	0.94[ASN][1000 genomes]
rs72750120	0.94[ASN][1000 genomes]
rs72750121	0.94[ASN][1000 genomes]
rs72750122	0.94[ASN][1000 genomes]
rs72750123	0.94[ASN][1000 genomes]
rs72750126	0.94[ASN][1000 genomes]
rs72750127	0.94[ASN][1000 genomes]
rs72750130	0.94[ASN][1000 genomes]
rs72750131	0.94[ASN][1000 genomes]
rs72750134	0.94[ASN][1000 genomes]
rs72750140	0.87[ASN][1000 genomes]
rs72750144	0.87[ASN][1000 genomes]
rs72750148	0.87[ASN][1000 genomes]
rs72751827	0.87[ASN][1000 genomes]
rs72751841	0.87[ASN][1000 genomes]
rs72751844	0.87[ASN][1000 genomes]
rs72751846	0.87[ASN][1000 genomes]
rs72751847	0.87[ASN][1000 genomes]
rs72751863	0.87[ASN][1000 genomes]
rs72751866	0.87[ASN][1000 genomes]
rs72751867	0.87[ASN][1000 genomes]
rs72751871	0.87[ASN][1000 genomes]
rs72753636	0.87[ASN][1000 genomes]
rs72753638	0.87[ASN][1000 genomes]
rs72753639	0.87[ASN][1000 genomes]
rs72753641	0.87[ASN][1000 genomes]
rs72753648	0.87[ASN][1000 genomes]
rs72753652	0.87[ASN][1000 genomes]
rs72753656	0.87[ASN][1000 genomes]
rs72753660	0.87[ASN][1000 genomes]
rs72753664	0.87[ASN][1000 genomes]
rs72753670	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52804000-52808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52804600-52808400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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