Variant report

Variant	rs12991090
Chromosome Location	chr2:67645619-67645620
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	chr2:67623013..67625214-chr2:67645245..67647212,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143971	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10496153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1063571	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12185591	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12185702	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12996359	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13000557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13004747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13004765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13009070	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13015349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13017696	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13018894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13026513	0.84[EUR][1000 genomes]
rs13030037	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13030211	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13034744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13035051	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13035754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13036061	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1521051	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17545245	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17545301	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17545329	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2171176	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34103917	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34274370	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34281542	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34298852	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34418651	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34493710	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34547630	0.84[EUR][1000 genomes]
rs34636997	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34737312	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34920978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34962808	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35002490	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35144434	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35382600	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35503819	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35570926	0.84[EUR][1000 genomes]
rs35607813	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35686078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35777125	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36098430	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4428006	0.84[EUR][1000 genomes]
rs62154948	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62154949	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62154950	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62154951	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62154952	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62154955	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62154957	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62154958	0.96[EUR][1000 genomes]
rs62156688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156689	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156692	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156695	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156699	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156700	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156702	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156703	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156754	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62156756	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156757	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156758	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62158289	0.83[AMR][1000 genomes]
rs71411986	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71411987	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71411988	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7585807	1.00[AMR][1000 genomes];1.00[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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:67638800-67650600	Weak transcription	Fetal Lung	lung
2	chr2:67638800-67651600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:67639200-67673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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