Variant report

Variant	rs12497387
Chromosome Location	chr3:177666644-177666645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1075544	0.82[ASN][1000 genomes]
rs10936960	0.82[ASN][1000 genomes]
rs11919677	0.91[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11920776	0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11922170	0.82[ASN][1000 genomes]
rs12489750	0.95[ASN][1000 genomes]
rs12492069	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12492409	0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs13062823	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs13066104	0.82[ASN][1000 genomes]
rs13074448	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13075342	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13087011	0.82[ASN][1000 genomes]
rs13314585	0.82[ASN][1000 genomes]
rs1421157	0.82[ASN][1000 genomes]
rs1421158	0.82[ASN][1000 genomes]
rs1421160	0.82[ASN][1000 genomes]
rs1421161	0.82[ASN][1000 genomes]
rs1421162	0.82[ASN][1000 genomes]
rs1421163	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1421164	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421169	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1421170	0.82[ASN][1000 genomes]
rs1421173	0.82[ASN][1000 genomes]
rs1582399	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16828811	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828819	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1861886	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1895068	0.82[ASN][1000 genomes]
rs34300091	0.82[ASN][1000 genomes]
rs34534264	0.95[ASN][1000 genomes]
rs34603970	0.87[EUR][1000 genomes]
rs34969108	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35494413	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35569214	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35751119	0.99[ASN][1000 genomes]
rs3978728	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs57315928	0.82[ASN][1000 genomes]
rs6769109	0.82[ASN][1000 genomes]
rs6786110	0.91[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs6804905	0.82[ASN][1000 genomes]
rs737553	0.82[ASN][1000 genomes]
rs737555	0.82[ASN][1000 genomes]
rs7616735	0.86[ASN][1000 genomes]
rs7619802	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7645977	0.84[ASN][1000 genomes]
rs9838142	0.82[ASN][1000 genomes]
rs9862300	0.82[ASN][1000 genomes]
rs9875424	0.82[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	nsv931055	chr3:177229521-177889872	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv829805	chr3:177662113-177805003	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv997975	chr3:177664921-177719623	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12497387	ATP11B	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177663200-177666800	Weak transcription	Primary B cells from cord blood	blood
2	chr3:177663800-177666800	Weak transcription	Thymus	Thymus
3	chr3:177666200-177667200	Enhancers	HSMM	muscle
4	chr3:177666400-177666800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:177666400-177667400	Enhancers	Fetal Muscle Leg	muscle
6	chr3:177666400-177667400	Enhancers	HSMMtube	muscle
7	chr3:177666400-177667600	Enhancers	Fetal Thymus	thymus
8	chr3:177666400-177668000	Enhancers	Dnd41	blood
9	chr3:177666600-177666800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:177666600-177668400	Enhancers	Primary B cells from peripheral blood	blood

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