Variant report

Variant	rs3782366
Chromosome Location	chr12:72938635-72938636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10735970	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10748198	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10748202	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10784975	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10784979	0.88[EUR][1000 genomes]
rs10879436	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10879439	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10879461	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10879462	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10879464	0.82[EUR][1000 genomes]
rs10879465	0.83[EUR][1000 genomes]
rs10879466	0.83[EUR][1000 genomes]
rs11179240	0.85[ASN][1000 genomes]
rs11179280	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1214894	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1214897	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1214899	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1347194	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1347196	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1353160	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1387978	0.83[ASN][1000 genomes]
rs1389497	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444606	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1444607	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1687265	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1817885	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1836042	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1836043	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1836044	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1864837	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1864838	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1965318	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2367747	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2367751	0.84[ASN][1000 genomes]
rs2887071	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs305402	0.85[EUR][1000 genomes]
rs305403	0.85[EUR][1000 genomes]
rs3782367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817612	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3843025	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3852549	0.86[EUR][1000 genomes]
rs3852550	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3910234	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4100196	0.88[EUR][1000 genomes]
rs605027	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6582090	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6582094	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6582095	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs683101	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7131984	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7135547	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71457035	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs723867	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7295898	0.85[ASN][1000 genomes]
rs7299984	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7308678	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7309263	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7309651	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7967001	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7969680	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7969934	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs963407	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs996575	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv899258	chr12:72624088-72957899	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1044083	chr12:72647640-73275526	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv469465	chr12:72655925-73259114	Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv559363	chr12:72655925-73259114	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv868884	chr12:72664763-73241518	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv832453	chr12:72778058-72966827	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv817280	chr12:72820558-73508605	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv899259	chr12:72885554-73011367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv899260	chr12:72914831-72977526	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1801229	chr12:72933432-72943972	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72935000-72941000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:72935600-72939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:72938600-72939600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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