Variant report

Variant	rs11130423
Chromosome Location	chr3:54546056-54546057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11706275	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap]
rs11707007	0.87[EUR][1000 genomes]
rs11708855	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs11708915	0.89[EUR][1000 genomes]
rs11711518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714447	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs13073425	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13089488	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17140	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17747001	0.86[CHD][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap]
rs17747054	0.83[CHB][hapmap]
rs2053862	0.92[CEU][hapmap]
rs28507696	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2884804	0.85[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs57828037	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58452494	0.91[EUR][1000 genomes]
rs6414584	0.85[CEU][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs6445673	0.92[CEU][hapmap]
rs6445677	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6445680	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6445682	0.84[CEU][hapmap]
rs6445684	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs6445685	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs6445687	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs6445690	0.89[CEU][hapmap];0.87[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6775352	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs6789926	0.88[CEU][hapmap]
rs6790503	0.85[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs6795380	0.85[CEU][hapmap]
rs6798952	0.85[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs7372541	0.89[CEU][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs7372624	0.92[EUR][1000 genomes]
rs7374204	0.96[CEU][hapmap];0.80[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs7428361	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7431090	0.90[EUR][1000 genomes]
rs7432845	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs7614229	0.91[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs7636708	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs9816842	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9874147	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9874177	0.89[CEU][hapmap];0.87[CHB][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][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	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428084	chr3:54404258-54742756	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv876810	chr3:54480798-54585416	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11130423	MAPKAPK3	cis	cerebellum	SCAN
rs11130423	HEMK1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54543800-54553600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:54545600-54546200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:54545800-54546400	Enhancers	Fetal Muscle Trunk	muscle
4	chr3:54546000-54546400	Enhancers	Fetal Muscle Leg	muscle

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