Variant report

Variant	rs72724903
Chromosome Location	chr8:125258627-125258628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16899467	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17360508	0.88[ASN][1000 genomes]
rs55777105	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72724904	0.89[EUR][1000 genomes];0.83[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	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125249400-125259400	Weak transcription	Right Ventricle	heart
2	chr8:125250400-125267600	Weak transcription	Fetal Heart	heart
3	chr8:125257200-125258800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:125257200-125259200	Weak transcription	Stomach Mucosa	stomach
5	chr8:125258000-125259400	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:125258000-125259800	Enhancers	Spleen	Spleen
7	chr8:125258200-125259200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:125258400-125259400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:125258400-125259400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:125258600-125259400	Weak transcription	Esophagus	oesophagus

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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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