Variant report

Variant	rs4372487
Chromosome Location	chr12:122652352-122652353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10847516	0.84[ASN][1000 genomes]
rs11058587	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11058789	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11059472	0.87[ASN][1000 genomes]
rs11059505	0.88[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11059675	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11608363	0.86[ASN][1000 genomes]
rs11611988	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11613060	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12816786	0.84[ASN][1000 genomes]
rs12828783	0.87[CEU][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs34402328	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4040811	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319543	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61954257	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6489217	0.87[ASN][1000 genomes]
rs6489244	0.82[MEX][hapmap]
rs7953139	0.87[ASN][1000 genomes]
rs7955910	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7968808	0.88[ASW][hapmap];0.96[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7972875	0.87[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs7972979	0.88[CEU][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4372487	MLXIP	Cis_1M	lymphoblastoid	RTeQTL
rs4372487	GPR81	cis	cerebellum	SCAN
rs4372487	PRKAB1	cis	cerebellum	SCAN
rs4372487	P2RX4	cis	parietal	SCAN
rs4372487	FAM101A	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
2	chr12:122650600-122652400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:122651200-122652400	Enhancers	Fetal Intestine Large	intestine
4	chr12:122651600-122652400	Enhancers	Fetal Intestine Small	intestine
5	chr12:122652200-122652400	Bivalent Enhancer	HepG2	liver
6	chr12:122652200-122656800	Weak transcription	Liver	Liver

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