Variant report

Variant	rs12640095
Chromosome Location	chr4:47145034-47145035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10002281	0.97[LWK][hapmap];0.88[MKK][hapmap]
rs10011608	0.88[YRI][hapmap]
rs10016226	0.80[ASN][1000 genomes]
rs10029262	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs10034943	0.81[ASN][1000 genomes]
rs10517179	0.87[LWK][hapmap];0.87[MKK][hapmap];0.92[YRI][hapmap]
rs11730134	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11936171	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11940530	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs12645665	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs1372490	0.86[JPT][hapmap]
rs1470207	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1596138	0.97[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17600029	1.00[LWK][hapmap]
rs1946966	0.97[CHD][hapmap];0.82[JPT][hapmap];0.85[YRI][hapmap]
rs2351299	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2351300	0.90[JPT][hapmap];1.00[LWK][hapmap]
rs3775536	0.85[LWK][hapmap];0.88[YRI][hapmap]
rs3822110	0.85[LWK][hapmap]
rs4463042	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447541	0.84[LWK][hapmap]
rs67848491	0.80[ASN][1000 genomes]
rs6815891	0.80[JPT][hapmap]
rs6854637	0.88[LWK][hapmap];0.88[YRI][hapmap]
rs7435958	0.91[CHB][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap]
rs7654411	0.82[ASN][1000 genomes]
rs7663591	0.88[LWK][hapmap];0.88[YRI][hapmap]
rs7673824	0.90[JPT][hapmap]
rs7691424	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs7691490	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs9291303	0.88[YRI][hapmap]
rs9999060	0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[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	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv879003	chr4:47102993-47215939	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv4325	chr4:47142343-47187026	Enhancers Weak transcription Flanking Active TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12640095	LRRFIP1	trans	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47143800-47146800	Weak transcription	Fetal Heart	heart
2	chr4:47144800-47145600	Enhancers	GM12878-XiMat	blood

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