Variant report

Variant	rs250728
Chromosome Location	chr5:76059094-76059095
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs153312	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs166175	0.91[ASN][1000 genomes]
rs173669	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs185156	0.90[ASN][1000 genomes]
rs250725	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250758	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250760	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250761	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs253085	0.93[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs250728	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76054400-76059600	Enhancers	NHEK	skin
2	chr5:76056200-76067000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:76056600-76059200	Enhancers	K562	blood
4	chr5:76057600-76060600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:76058200-76059200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:76058400-76059600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:76058400-76059600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:76058400-76059800	Enhancers	HMEC	breast
9	chr5:76058600-76059800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:76058800-76059400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:76059000-76059200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:76059000-76059200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:76059000-76059400	Enhancers	HepG2	liver

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Input of quick search could be:

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

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