Variant report

Variant	rs12427075
Chromosome Location	chr12:122645918-122645919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10744239	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10773144	0.86[EUR][1000 genomes]
rs10773171	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10846939	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10846976	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10846977	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11058015	0.90[EUR][1000 genomes]
rs11058058	0.85[ASN][1000 genomes]
rs11058224	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11058231	0.93[EUR][1000 genomes]
rs11058236	0.93[EUR][1000 genomes]
rs11058316	0.84[EUR][1000 genomes]
rs11058323	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12228690	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12427048	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2137200	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2175531	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35242277	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35396001	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35822906	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4447210	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758681	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4758682	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4758683	0.89[EUR][1000 genomes]
rs61955561	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6488994	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6489029	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7303129	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7303214	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7311842	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7311871	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963903	0.91[EUR][1000 genomes]
rs7964127	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7972527	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7976422	0.86[ASN][1000 genomes]
rs7979259	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs925459	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs925460	0.83[ASN][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	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
5	esv21424	chr12:122634975-122649886	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12427075	MLXIP	Cis_1M	lymphoblastoid	RTeQTL
rs12427075	PCTK2	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122627000-122646800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:122630600-122655600	Weak transcription	Right Ventricle	heart
3	chr12:122634000-122649600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:122645400-122648800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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