Variant report

Variant	rs11995215
Chromosome Location	chr8:66782514-66782515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11995869	0.87[ASW][hapmap];1.00[CEU][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs11996963	0.94[EUR][1000 genomes]
rs11997004	0.92[EUR][1000 genomes]
rs12114361	0.91[ASN][1000 genomes]
rs1355830	0.82[ASN][1000 genomes]
rs16932346	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs16932394	0.85[JPT][hapmap]
rs16932396	0.82[JPT][hapmap]
rs16932422	0.85[JPT][hapmap]
rs16932423	0.85[JPT][hapmap]
rs16932440	0.85[JPT][hapmap]
rs16932441	0.82[JPT][hapmap]
rs17396080	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs17396192	0.89[CEU][hapmap]
rs2357474	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2357662	0.85[JPT][hapmap]
rs35688380	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs3922725	0.94[EUR][1000 genomes]
rs3935203	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs56784317	1.00[ASN][1000 genomes]
rs57261641	0.87[ASN][1000 genomes]
rs57517571	0.87[ASN][1000 genomes]
rs57688867	1.00[ASN][1000 genomes]
rs58213885	0.87[ASN][1000 genomes]
rs58760509	0.87[ASN][1000 genomes]
rs59322796	0.87[ASN][1000 genomes]
rs60213300	0.87[ASN][1000 genomes]
rs61464990	0.87[ASN][1000 genomes]
rs61575731	0.91[ASN][1000 genomes]
rs61736485	0.87[ASN][1000 genomes]
rs6415604	1.00[CHB][hapmap]
rs6472227	1.00[CHB][hapmap]
rs6984768	0.91[ASN][1000 genomes]
rs6987499	0.91[ASN][1000 genomes]
rs6996048	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs7001138	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs7001442	0.85[JPT][hapmap]
rs7005571	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7014758	0.85[JPT][hapmap]
rs73242974	0.94[EUR][1000 genomes]
rs73242990	0.94[EUR][1000 genomes]
rs73244828	0.87[EUR][1000 genomes]
rs73693418	0.87[ASN][1000 genomes]
rs73693420	0.87[ASN][1000 genomes]
rs7813023	0.85[JPT][hapmap]
rs7815318	0.85[JPT][hapmap]
rs7815325	0.85[JPT][hapmap]
rs7821744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7829484	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap]
rs7836663	1.00[ASN][1000 genomes]
rs7845030	0.83[ASN][1000 genomes]
rs9298108	0.84[JPT][hapmap]
rs953177	0.85[JPT][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1023239	chr8:66775321-66904124	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3390496	chr8:66775633-66782628	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11995215	MTFR1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66781600-66783600	Enhancers	K562	blood
2	chr8:66782200-66783200	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:66782400-66783200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:66782400-66783200	Enhancers	Placenta	Placenta

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