Variant report

Variant	rs2408508
Chromosome Location	chr12:46730600-46730601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10467213	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1079780	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10880947	0.81[EUR][1000 genomes]
rs10880953	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880959	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880960	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880961	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11183438	0.82[ASN][1000 genomes]
rs11183441	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11504511	0.81[EUR][1000 genomes]
rs12296120	0.87[ASN][1000 genomes]
rs12298619	0.81[EUR][1000 genomes]
rs12302984	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12310125	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12311507	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12317787	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580583	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12816358	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12816413	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471223	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1492892	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1492894	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1586905	0.80[ASN][1000 genomes]
rs2018424	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2087834	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2169030	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172398	0.82[EUR][1000 genomes]
rs2242355	0.80[EUR][1000 genomes]
rs2307061	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2408504	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408505	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408506	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2408507	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2897968	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34119192	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35123676	0.82[EUR][1000 genomes]
rs35497251	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3782904	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4238102	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4438106	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4547171	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586238	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4768111	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768113	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4768115	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768116	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768694	0.82[EUR][1000 genomes]
rs4768695	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768696	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4768698	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59919892	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6582625	0.81[EUR][1000 genomes]
rs7132228	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134855	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7297536	0.80[ASN][1000 genomes]
rs7310869	0.81[EUR][1000 genomes]
rs7314069	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7315493	0.81[EUR][1000 genomes]
rs7316127	0.81[EUR][1000 genomes]
rs7316773	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7953659	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7958774	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7960147	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7961994	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7965629	0.81[EUR][1000 genomes]
rs7966288	0.81[EUR][1000 genomes]
rs7967669	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968173	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7968283	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7974529	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7976362	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7979418	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7979514	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980775	0.81[EUR][1000 genomes]
rs898242	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs956910	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9668077	0.82[AMR][1000 genomes]
rs9669051	0.86[EUR][1000 genomes]
rs9669381	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9795971	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][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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