Variant report

Variant	rs13389426
Chromosome Location	chr2:54965089-54965090
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10170283	0.82[YRI][hapmap]
rs13396683	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13414727	1.00[GIH][hapmap]
rs13432101	1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17046265	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913513	0.91[AFR][1000 genomes]
rs72913519	0.91[AFR][1000 genomes]
rs72913526	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913538	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913562	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS 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	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv582025	chr2:54960680-54973834	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54963200-54965800	Weak transcription	Aorta	Aorta
2	chr2:54964800-54965200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:54964800-54965400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:54964800-54967200	Enhancers	Pancreas	Pancrea
5	chr2:54964800-54969600	Enhancers	HepG2	liver
6	chr2:54965000-54965200	Enhancers	Brain Anterior Caudate	brain
7	chr2:54965000-54965200	Enhancers	Fetal Intestine Small	intestine
8	chr2:54965000-54965400	Enhancers	Foreskin Keratinocyte 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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