Variant report

Variant	rs1388243
Chromosome Location	chr6:45650062-45650063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10948245	1.00[CEU][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10948246	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10948248	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12524499	0.93[EUR][1000 genomes]
rs16873629	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28579170	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3925761	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4714863	0.89[EUR][1000 genomes]
rs73735437	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73735442	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7752609	0.89[EUR][1000 genomes]
rs9349323	0.89[EUR][1000 genomes]
rs9357490	0.81[EUR][1000 genomes]
rs9369568	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9369569	0.89[EUR][1000 genomes]
rs9381392	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9395112	0.82[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr6:45646800-45650400	ZNF genes & repeats	GM12878-XiMat	blood
2	chr6:45647800-45650800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
3	chr6:45649400-45650400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:45649800-45650400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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