Variant report

Variant	rs12068420
Chromosome Location	chr1:224748393-224748394
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10799582	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10916635	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916636	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916637	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10916638	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10916639	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916640	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12033478	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043625	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12057775	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12062991	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12072482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317810	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1499283	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16849369	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2050625	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794804	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2794808	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4654047	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825839	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61825840	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61825841	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656824	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs698277	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs698280	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712068	0.93[EUR][1000 genomes]
rs712070	0.93[EUR][1000 genomes]
rs712071	0.95[EUR][1000 genomes]
rs712072	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs712073	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs712074	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs712075	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs712076	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs712082	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712084	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs712085	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712087	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs712092	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7541415	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs791391	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs791393	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs791508	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs791509	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs791510	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs791511	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs791512	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs880368	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983948	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs985301	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs989755	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224740000-224762200	Weak transcription	Ovary	ovary
2	chr1:224741400-224751400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:224742000-224753000	Weak transcription	Pancreas	Pancrea
4	chr1:224745800-224748400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224746000-224748600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:224746200-224748400	Enhancers	NHDF-Ad	bronchial
7	chr1:224746200-224748400	Enhancers	NHEK	skin
8	chr1:224746400-224748600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:224747000-224751000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:224747200-224751400	Weak transcription	Psoas Muscle	Psoas
11	chr1:224747200-224751600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:224747800-224750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:224748000-224749800	ZNF genes & repeats	HMEC	breast
14	chr1:224748200-224748800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:224748200-224750200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:224748200-224750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:224748200-224752200	Weak transcription	Osteobl	bone

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