Variant report

Variant	rs72791177
Chromosome Location	chr5:111944862-111944863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55731472	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56118038	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56139146	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72791176	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72793987	0.84[AMR][1000 genomes]
rs72793998	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv819717	chr5:111935623-111947507	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv821026	chr5:111938702-111945437	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv823180	chr5:111939337-111947460	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv823182	chr5:111939479-111947460	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv16282	chr5:111939492-111944907	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111941000-111952600	Weak transcription	Right Atrium	heart
2	chr5:111943200-111945200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:111943400-111945400	Active TSS	Fetal Intestine Large	intestine
4	chr5:111943600-111945400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:111944800-111945800	Enhancers	Dnd41	blood

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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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