Variant report

Variant	rs250761
Chromosome Location	chr5:76067376-76067377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10067774	0.82[ASN][1000 genomes]
rs153312	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs166175	0.92[ASN][1000 genomes]
rs1673073	0.82[ASN][1000 genomes]
rs173669	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs185156	0.93[ASN][1000 genomes]
rs250725	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs250728	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250754	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs250758	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250760	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253085	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs253087	0.80[ASN][1000 genomes]
rs253088	0.82[AMR][1000 genomes];0.84[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv965590	chr5:76061083-76081416	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs250761	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76059400-76067400	Weak transcription	HepG2	liver
2	chr5:76060600-76070200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:76061600-76074800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:76063000-76067600	Weak transcription	Osteobl	bone
5	chr5:76063400-76067800	Weak transcription	NHDF-Ad	bronchial
6	chr5:76063600-76067400	Weak transcription	NHLF	lung
7	chr5:76063800-76067400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:76067200-76067400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:76067200-76068000	Enhancers	A549	lung

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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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