Variant report

Variant	rs185156
Chromosome Location	chr5:76066800-76066801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13166089	0.83[AMR][1000 genomes]
rs153312	0.96[ASN][1000 genomes]
rs166175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173669	0.91[ASN][1000 genomes]
rs250725	0.91[ASN][1000 genomes]
rs250728	0.90[ASN][1000 genomes]
rs250755	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs250756	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs250758	0.93[ASN][1000 genomes]
rs250760	0.93[ASN][1000 genomes]
rs250761	0.93[ASN][1000 genomes]
rs250763	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs250764	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs253085	0.95[ASN][1000 genomes]
rs429332	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs458380	0.89[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
rs185156	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76056200-76067000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:76059400-76067400	Weak transcription	HepG2	liver
3	chr5:76060600-76070200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:76061600-76074800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:76062800-76067200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:76063000-76067200	Weak transcription	A549	lung
7	chr5:76063000-76067600	Weak transcription	Osteobl	bone
8	chr5:76063400-76067800	Weak transcription	NHDF-Ad	bronchial
9	chr5:76063600-76067400	Weak transcription	NHLF	lung
10	chr5:76063800-76067400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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