Variant report

Variant	rs7711379
Chromosome Location	chr5:106674243-106674244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17344660	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17344856	0.89[EUR][1000 genomes]
rs17403761	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28818231	0.96[EUR][1000 genomes]
rs56890592	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106672200-106674800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:106672200-106675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:106672400-106674400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:106672400-106674400	Enhancers	NHEK	skin
5	chr5:106673000-106674600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:106673200-106676400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:106673200-106676400	Weak transcription	Fetal Stomach	stomach
8	chr5:106674200-106676200	Weak transcription	HMEC	breast

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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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