Variant report

Variant	rs16997770
Chromosome Location	chr4:124693346-124693347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124693285..124694245-chr4:124911389..124911929,2	MCF-7	breast:
2	chr4:124688857..124690611-chr4:124692312..124695187,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10030323	0.80[EUR][1000 genomes]
rs10518423	0.89[EUR][1000 genomes]
rs11098720	0.89[EUR][1000 genomes]
rs11098721	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11940296	0.90[EUR][1000 genomes]
rs11945657	0.81[EUR][1000 genomes]
rs12501940	0.90[EUR][1000 genomes]
rs12511921	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1364872	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1368507	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1425418	0.89[EUR][1000 genomes]
rs17007229	0.87[EUR][1000 genomes]
rs17007245	0.89[EUR][1000 genomes]
rs1820372	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1865127	0.80[EUR][1000 genomes]
rs2060286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28776500	0.90[EUR][1000 genomes]
rs35477987	0.89[EUR][1000 genomes]
rs4833287	0.82[EUR][1000 genomes]
rs4833288	0.90[EUR][1000 genomes]
rs4833940	0.90[EUR][1000 genomes]
rs4833953	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57303010	0.90[EUR][1000 genomes]
rs62321806	0.80[EUR][1000 genomes]
rs6820127	0.90[EUR][1000 genomes]
rs6820130	0.90[EUR][1000 genomes]
rs6823436	0.90[EUR][1000 genomes]
rs6825185	0.90[EUR][1000 genomes]
rs6847923	0.89[EUR][1000 genomes]
rs6848387	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72621841	0.83[EUR][1000 genomes]
rs72621843	0.90[EUR][1000 genomes]
rs72621845	0.81[EUR][1000 genomes]
rs72621846	0.80[EUR][1000 genomes]
rs7659752	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7683595	0.81[EUR][1000 genomes]
rs919015	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs963892	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16997770	FHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124687000-124704600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124689600-124698200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:124689600-124698200	Weak transcription	Aorta	Aorta

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