Variant report

Variant	rs66597772
Chromosome Location	chr1:223025141-223025142
allele	CAGAAATGG/TAGAAATGGA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1132369	0.81[ASN][1000 genomes]
rs1132371	0.81[ASN][1000 genomes]
rs12734196	1.00[ASN][1000 genomes]
rs17163525	0.87[AFR][1000 genomes]
rs17476063	0.90[AMR][1000 genomes]
rs17535032	0.81[ASN][1000 genomes]
rs17535137	0.81[ASN][1000 genomes]
rs17535305	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34074917	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34151467	0.81[ASN][1000 genomes]
rs34194482	1.00[ASN][1000 genomes]
rs34299243	0.81[ASN][1000 genomes]
rs34596963	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34682656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34764163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34791822	0.81[ASN][1000 genomes]
rs34840460	0.95[EUR][1000 genomes]
rs34873092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34984199	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197173	0.81[ASN][1000 genomes]
rs35319605	1.00[ASN][1000 genomes]
rs35597790	1.00[ASN][1000 genomes]
rs35898924	1.00[ASN][1000 genomes]
rs35979308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36044931	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36113407	1.00[ASN][1000 genomes]
rs61839589	0.85[AMR][1000 genomes]
rs61839600	0.81[ASN][1000 genomes]
rs61839601	0.81[ASN][1000 genomes]
rs61839602	0.81[ASN][1000 genomes]
rs61840262	0.87[AFR][1000 genomes]
rs61840264	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61840265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61840266	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61840269	0.87[AFR][1000 genomes]
rs71644708	0.81[ASN][1000 genomes]
rs71644716	1.00[ASN][1000 genomes]
rs9441849	0.87[AFR][1000 genomes]
rs9441937	0.87[AFR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222989400-223026800	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:222990400-223027400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:223010800-223027600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:223013600-223030800	Weak transcription	Ovary	ovary
5	chr1:223017600-223042400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:223018200-223029600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:223018200-223029800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:223018200-223031000	Weak transcription	Fetal Kidney	kidney
9	chr1:223018400-223030400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:223021200-223027600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:223021200-223031000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:223024000-223029200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:223024600-223029200	Weak transcription	Pancreas	Pancrea

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