Variant report

Variant	rs7711298
Chromosome Location	chr5:106628768-106628769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10058308	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10062445	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10077806	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10515372	0.83[EUR][1000 genomes]
rs13163748	0.83[EUR][1000 genomes]
rs13167605	0.83[EUR][1000 genomes]
rs13169680	0.83[EUR][1000 genomes]
rs13179809	0.83[EUR][1000 genomes]
rs13179824	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13184636	0.84[EUR][1000 genomes]
rs13184643	0.83[EUR][1000 genomes]
rs13184806	0.97[EUR][1000 genomes]
rs17159693	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35307227	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35709847	0.83[EUR][1000 genomes]
rs35775035	0.83[EUR][1000 genomes]
rs56852743	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6596736	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6897756	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs765075	0.83[EUR][1000 genomes]
rs7730647	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7735115	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9327996	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9327997	0.92[AMR][1000 genomes];0.83[EUR][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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106621800-106636600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:106625800-106629600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:106626200-106629400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:106626600-106629000	Weak transcription	Fetal Heart	heart
5	chr5:106626600-106629400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:106626600-106630000	Weak transcription	Small Intestine	intestine
7	chr5:106627000-106629800	Weak transcription	Fetal Kidney	kidney
8	chr5:106627200-106628800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:106627200-106629200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:106627200-106629600	Weak transcription	Stomach Mucosa	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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