Variant report

Variant	rs13389896
Chromosome Location	chr2:234959122-234959123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234492023-234494396..2:234954947-234965240	Hela-S3	cervix:
2	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000228949	Chromatin interaction
ENSG00000224287	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10171064	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10178472	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10192448	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10193392	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10195232	0.80[EUR][1000 genomes]
rs10197450	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10207367	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10210816	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10803669	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11563194	0.83[EUR][1000 genomes]
rs11563195	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13395783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13396164	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1354896	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1395841	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17864802	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17864805	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17865706	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17866615	0.82[EUR][1000 genomes]
rs17869100	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1911595	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239536	0.84[EUR][1000 genomes]
rs2267901	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2267903	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28903684	0.82[EUR][1000 genomes]
rs3771332	0.91[EUR][1000 genomes]
rs3819748	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4664004	0.94[ASN][1000 genomes]
rs634613	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs665535	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7585488	0.99[ASN][1000 genomes]
rs7593927	0.99[ASN][1000 genomes]
rs7603271	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9636245	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1006053	chr2:234941290-234963441	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
5	nsv1007335	chr2:234941290-234964316	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
6	nsv1001846	chr2:234943285-234963541	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234956600-234959400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:234956800-234959400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234956800-234959600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:234957200-234959400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:234957200-234959600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:234957200-234960000	Weak transcription	HMEC	breast
7	chr2:234958200-234959200	Weak transcription	NHLF	lung
8	chr2:234959000-234959800	Flanking Active TSS	Liver	Liver

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