Variant report

Variant	rs1769059
Chromosome Location	chr1:192933745-192933746
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1339589	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1339592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1578163	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1612628	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1618583	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769055	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769056	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769057	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769061	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769068	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769070	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1769071	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1770923	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486494	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2486495	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2486498	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2487283	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2487289	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189492	0.85[AMR][1000 genomes]
rs6661948	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73068182	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73068192	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546076	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7553594	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs842784	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842787	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842788	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842789	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842799	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842800	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842801	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842805	0.93[YRI][hapmap]
rs842806	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842807	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842808	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842809	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842810	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842811	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs842813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs863600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866380	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs866381	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946556	0.92[AFR][1000 genomes];1.00[AMR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192909000-192936600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192922400-192941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:192933000-192937800	Weak transcription	Psoas Muscle	Psoas

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