Variant report

Variant	rs12996327
Chromosome Location	chr2:53676484-53676485
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11674306	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11674548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11680345	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11886009	0.81[EUR][1000 genomes]
rs12470776	0.88[AFR][1000 genomes]
rs12987161	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12999083	0.84[EUR][1000 genomes]
rs13010410	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1402899	0.83[EUR][1000 genomes]
rs1521924	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1521925	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1521927	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1521928	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1521930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1521932	0.83[EUR][1000 genomes]
rs4330141	0.83[EUR][1000 genomes]
rs4566397	0.84[EUR][1000 genomes]
rs4672432	0.87[AFR][1000 genomes]
rs4672433	0.87[AFR][1000 genomes]
rs4672434	0.81[AFR][1000 genomes]
rs4672435	0.82[AFR][1000 genomes]
rs60013509	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs60179496	0.88[AFR][1000 genomes]
rs66734139	0.84[EUR][1000 genomes]
rs6718796	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6719172	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6747348	0.88[AFR][1000 genomes]
rs6748128	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6748135	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7576429	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7588880	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs882249	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs995151	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs995165	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][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	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv20666	chr2:53671457-53687640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53669600-53679800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:53673200-53680400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:53673800-53679200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:53673800-53687200	Weak transcription	Hela-S3	cervix

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