Variant report

Variant	rs250756
Chromosome Location	chr5:76072988-76072989
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10067774	0.90[ASN][1000 genomes]
rs13166089	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13179180	0.86[EUR][1000 genomes]
rs166175	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1673073	0.90[ASN][1000 genomes]
rs185156	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2243010	0.86[EUR][1000 genomes]
rs250754	0.90[ASN][1000 genomes]
rs250755	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs250763	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs250764	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs250765	0.84[ASN][1000 genomes]
rs3135471	0.82[EUR][1000 genomes]
rs429332	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs458380	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv462213	chr5:76067624-76112869	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598682	chr5:76067624-76112869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs250756	F2R	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76061600-76074800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:76068600-76074600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:76068800-76074400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:76070600-76074400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:76070600-76074600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:76070600-76080600	Weak transcription	Fetal Intestine Small	intestine
7	chr5:76070800-76073400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:76070800-76074400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:76071800-76073000	Enhancers	Fetal Brain Male	brain
10	chr5:76072400-76073400	Weak transcription	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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