Variant report

Variant	rs12423472
Chromosome Location	chr12:26372258-26372259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10842693	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048432	0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12313670	0.84[YRI][hapmap]
rs12313736	0.90[LWK][hapmap];0.90[MKK][hapmap];0.92[YRI][hapmap]
rs12318480	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs12422262	0.92[ASN][1000 genomes]
rs12424240	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1351334	1.00[YRI][hapmap]
rs1531649	0.80[GIH][hapmap];0.81[TSI][hapmap]
rs2291140	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36034234	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4963653	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.88[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4963655	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4963656	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4963972	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4963973	0.98[ASN][1000 genomes]
rs59085537	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61914487	0.98[ASN][1000 genomes]
rs73090874	0.94[ASN][1000 genomes]
rs73295081	0.81[AFR][1000 genomes]
rs7470	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap]
rs765071	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955562	0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7971293	1.00[YRI][hapmap]
rs9214	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs9850	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.97[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	nsv648	chr12:26330291-26375186	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840338	chr12:26367307-26390319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12423472	KRAS	cis	cerebellum	SCAN
rs12423472	SSPN	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26358600-26379000	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:26359200-26379600	Weak transcription	Aorta	Aorta
3	chr12:26359600-26379000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:26360000-26372800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:26365000-26377400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:26366000-26379400	Weak transcription	Ovary	ovary
7	chr12:26366600-26390600	Weak transcription	HSMMtube	muscle
8	chr12:26367400-26372800	Weak transcription	Psoas Muscle	Psoas
9	chr12:26367400-26379000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:26368600-26372400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:26372000-26373400	Enhancers	Fetal Heart	heart
12	chr12:26372200-26379200	Weak transcription	Stomach Smooth Muscle	stomach

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