Variant report

Variant	rs639843
Chromosome Location	chr2:72674211-72674212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1400581	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1517185	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2203679	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2901146	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56298436	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs589547	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs590345	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs620770	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs629539	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs634586	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs647242	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs653220	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs668586	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6714419	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6714595	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6758593	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs676078	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7563738	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72647400-72688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:72653200-72675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:72655000-72690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:72655800-72690600	Weak transcription	Left Ventricle	heart
5	chr2:72665800-72689000	Weak transcription	Adipose Nuclei	Adipose
6	chr2:72672000-72690400	Weak transcription	Ovary	ovary
7	chr2:72672000-72702200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:72672200-72688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:72672800-72689400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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