Variant report

Variant	rs7308678
Chromosome Location	chr12:72975807-72975808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10735970	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10748198	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10748202	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784975	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784978	0.81[AMR][1000 genomes]
rs10784979	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10879436	0.85[EUR][1000 genomes]
rs10879439	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10879461	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10879462	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10879464	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10879465	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10879466	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11179280	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1214894	0.82[EUR][1000 genomes]
rs1214897	0.81[EUR][1000 genomes]
rs1214899	0.81[EUR][1000 genomes]
rs1347194	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1347196	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1353160	0.85[EUR][1000 genomes]
rs1389497	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1444606	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1444607	0.85[EUR][1000 genomes]
rs1817885	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1836042	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1836043	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1836044	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1864837	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1864838	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1965318	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2367747	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2887071	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs305402	0.84[EUR][1000 genomes]
rs305403	0.84[EUR][1000 genomes]
rs3782366	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3782367	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3817612	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3843025	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3852549	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3852550	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3910234	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4100196	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6582090	0.85[EUR][1000 genomes]
rs6582094	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6582095	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7131984	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7135547	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71457035	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs723867	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7299984	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7309263	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7309651	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7967001	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7969680	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7969934	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs963407	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs996575	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv832454	chr12:72940798-73081180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1805187	chr12:72949787-73013475	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72958200-72984400	Weak transcription	Pancreas	Pancrea
2	chr12:72964400-72986800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:72970600-72982800	Weak transcription	Ovary	ovary
4	chr12:72971200-72978600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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