Variant report

Variant	rs72786318
Chromosome Location	chr5:90542625-90542626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90540304..90543080-chr5:90544867..90547195,2	MCF-7	breast:
2	chr5:90527291..90547553-chr5:90674171..90681359,33	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10474341	1.00[ASN][1000 genomes]
rs12188638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514996	0.90[ASN][1000 genomes]
rs12515116	0.93[ASN][1000 genomes]
rs12520306	1.00[ASN][1000 genomes]
rs12653995	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658748	0.95[ASN][1000 genomes]
rs16869618	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175437	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34107416	0.94[AMR][1000 genomes]
rs56316727	0.91[ASN][1000 genomes]
rs56377435	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58781250	0.82[ASN][1000 genomes]
rs72786311	1.00[ASN][1000 genomes]
rs72786312	0.93[ASN][1000 genomes]
rs72786321	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786324	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786325	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786329	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786331	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72786332	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72786338	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72786350	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72786353	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72786354	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72786358	0.94[AMR][1000 genomes]
rs72786360	0.94[AMR][1000 genomes]
rs9647558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90525000-90542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:90541400-90543400	Weak transcription	Fetal Heart	heart

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