Variant report

Variant	rs72944411
Chromosome Location	chr2:40073267-40073268
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17024422	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17024445	1.00[AMR][1000 genomes]
rs6731134	0.89[AFR][1000 genomes]
rs72944409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944421	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	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv873891	chr2:40046658-40173905	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40072000-40073600	Enhancers	HMEC	breast
2	chr2:40072200-40073400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:40072200-40073400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:40072400-40073400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:40072400-40073800	Enhancers	NHEK	skin
6	chr2:40073200-40074400	Enhancers	Dnd41	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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