Variant report

Variant	rs4438106
Chromosome Location	chr12:46715528-46715529
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10467213	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1060735	0.87[CEU][hapmap]
rs1079780	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880947	1.00[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs10880953	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880959	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880960	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880961	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11183420	0.83[EUR][1000 genomes]
rs11183438	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11183441	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11504511	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12296120	0.82[ASN][1000 genomes]
rs12298619	0.88[EUR][1000 genomes]
rs12302984	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12310125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12311507	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12317787	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12320197	0.89[CHD][hapmap]
rs12580583	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12816358	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12816413	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1471223	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1492892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1492894	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1586905	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2018424	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2087834	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2169030	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2172398	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242355	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[EUR][1000 genomes]
rs2279560	0.87[CEU][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap]
rs2307061	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2408504	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2408505	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2408506	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2408507	0.89[EUR][1000 genomes]
rs2408508	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2897968	0.90[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34119192	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35123676	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35497251	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3782904	0.89[ASW][hapmap];0.88[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4238102	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4547171	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4586238	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4768110	0.85[EUR][1000 genomes]
rs4768111	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768113	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768115	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768116	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768694	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4768696	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768698	0.83[ASW][hapmap];0.88[CEU][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59919892	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6582625	0.88[EUR][1000 genomes]
rs7132228	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7134855	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7297536	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7310869	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs7314069	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7315493	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7316127	1.00[CEU][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs7316773	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7953659	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7958774	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7960147	0.88[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7961994	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7965629	0.88[EUR][1000 genomes]
rs7966288	0.88[EUR][1000 genomes]
rs7967669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7968173	0.88[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7968283	0.88[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7970911	0.87[EUR][1000 genomes]
rs7974529	0.89[ASW][hapmap];0.88[CEU][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7976362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7979418	0.90[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7979514	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980775	1.00[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs898242	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs956910	0.83[ASW][hapmap];0.88[CEU][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9668077	0.82[AMR][1000 genomes]
rs9669051	0.91[EUR][1000 genomes]
rs9669381	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9795971	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv521192	chr12:46709251-46720819	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46708800-46736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46715200-46715800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:46715200-46716000	Enhancers	HUES6 Cell Line	embryonic stem cell

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