Variant report

Variant	rs12808853
Chromosome Location	chr11:93936435-93936436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93928773..93931046-chr11:93935026..93936548,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1014499	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014500	0.88[AFR][1000 genomes]
rs10458852	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10765657	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10765658	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10765660	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831169	0.94[EUR][1000 genomes]
rs10831173	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10831174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831175	0.85[AMR][1000 genomes]
rs10831176	0.97[EUR][1000 genomes]
rs10831184	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11020678	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11020679	0.96[EUR][1000 genomes]
rs11020703	0.95[EUR][1000 genomes]
rs11020719	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12362988	0.85[AMR][1000 genomes]
rs12366039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792677	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12803129	0.82[EUR][1000 genomes]
rs1361929	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1541301	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16920039	0.97[EUR][1000 genomes]
rs1789652	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1792632	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1833063	0.85[AMR][1000 genomes]
rs1857680	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1944436	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2000956	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2156627	0.98[EUR][1000 genomes]
rs3020004	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3020016	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4597032	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4753131	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4753132	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4753548	0.85[AMR][1000 genomes]
rs4753569	0.81[AMR][1000 genomes]
rs480710	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs526036	0.83[AMR][1000 genomes]
rs545450	0.82[AMR][1000 genomes]
rs561807	0.83[AMR][1000 genomes]
rs581771	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584109	0.81[AMR][1000 genomes]
rs603157	0.82[AMR][1000 genomes]
rs613234	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6483324	0.82[EUR][1000 genomes]
rs655358	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs656810	0.82[AMR][1000 genomes]
rs657242	0.82[AMR][1000 genomes]
rs657896	0.83[AMR][1000 genomes]
rs688910	0.82[AMR][1000 genomes]
rs689315	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7115129	0.81[EUR][1000 genomes]
rs7118270	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7130456	0.82[EUR][1000 genomes]
rs7927338	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7927496	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7936241	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7944234	0.83[EUR][1000 genomes]
rs871244	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1038294	chr11:93918837-93982605	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12808853	RP11-680H20.2	cis	Artery Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93920400-93937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:93926800-93938800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:93934200-93937200	Enhancers	Fetal Lung	lung
4	chr11:93936200-93936600	Enhancers	K562	blood
5	chr11:93936400-93936600	Enhancers	Fetal Kidney	kidney
6	chr11:93936400-93936800	Weak transcription	HepG2	liver

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