Variant report

Variant	rs2408507
Chromosome Location	chr12:46729407-46729408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10467213	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1079780	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880953	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880959	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880960	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10880961	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10880966	0.82[AMR][1000 genomes]
rs11183441	0.86[EUR][1000 genomes]
rs1125909	0.83[AMR][1000 genomes]
rs12099669	0.83[AMR][1000 genomes]
rs12311507	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12317787	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12816358	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12816413	0.89[EUR][1000 genomes]
rs1471223	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1492894	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2131371	0.81[AMR][1000 genomes]
rs2169030	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2307061	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2408497	0.81[AMR][1000 genomes]
rs2408504	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2408505	0.89[EUR][1000 genomes]
rs2408506	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2408508	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2897968	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34119192	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3782904	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4238102	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4258438	0.82[AMR][1000 genomes]
rs4427617	0.81[AMR][1000 genomes]
rs4438106	0.89[EUR][1000 genomes]
rs4547171	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4586238	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768115	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768116	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4768118	0.81[AMR][1000 genomes]
rs4768119	0.82[AMR][1000 genomes]
rs4768695	0.87[EUR][1000 genomes]
rs4768696	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768698	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4768709	0.82[AMR][1000 genomes]
rs6582625	0.80[ASN][1000 genomes]
rs7132228	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7312259	0.81[AMR][1000 genomes]
rs7315493	0.80[ASN][1000 genomes]
rs7958774	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7960147	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7961994	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7968173	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7968283	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7970911	0.82[ASN][1000 genomes]
rs7974529	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7976280	0.81[AMR][1000 genomes]
rs7979418	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7979514	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs898242	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs956910	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9668077	0.82[AMR][1000 genomes]
rs9669051	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9669381	0.83[EUR][1000 genomes]
rs9795971	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 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

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