Variant report

Variant	rs6731708
Chromosome Location	chr2:48532154-48532155
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17037226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17039245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56806229	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59044598	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61405465	1.00[AMR][1000 genomes]
rs6545032	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707607	1.00[AMR][1000 genomes]
rs6709977	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6711828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723068	1.00[AMR][1000 genomes]
rs6728719	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6751375	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882148	1.00[AMR][1000 genomes]
rs72883965	1.00[AMR][1000 genomes]
rs72883976	1.00[AMR][1000 genomes]
rs72883981	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885740	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885747	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885750	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885760	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885796	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885800	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72885801	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889604	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72889610	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7606543	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9678904	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr2:48506000-48539000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:48528000-48539200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:48530200-48540200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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