Variant report

Variant	rs71449786
Chromosome Location	chr12:41290188-41290189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12809592	0.80[AMR][1000 genomes]
rs12811306	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12812222	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12812376	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12813013	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12815418	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12816087	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12821567	0.80[AMR][1000 genomes]
rs12821990	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12825145	0.80[AMR][1000 genomes]
rs12825902	0.80[AMR][1000 genomes]
rs12828342	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12828389	0.80[AMR][1000 genomes]
rs12828796	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12831625	0.83[AMR][1000 genomes]
rs12833053	0.80[AMR][1000 genomes]
rs34016577	0.80[AMR][1000 genomes]
rs34128411	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34482675	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34483042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34519483	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34554849	0.80[AMR][1000 genomes]
rs34601389	0.89[AMR][1000 genomes]
rs34622861	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34739748	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34778624	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34823642	0.80[AMR][1000 genomes]
rs34862559	0.83[AMR][1000 genomes]
rs35068475	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35135815	0.80[AMR][1000 genomes]
rs35143604	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35148802	0.83[AMR][1000 genomes]
rs35188176	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35234650	0.83[AMR][1000 genomes]
rs35243767	0.89[AMR][1000 genomes]
rs35291059	0.83[AMR][1000 genomes]
rs35319114	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35328876	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35354319	0.83[AMR][1000 genomes]
rs35450098	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35462205	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35489344	0.83[AMR][1000 genomes]
rs35582145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35617364	0.89[AMR][1000 genomes]
rs35636053	0.80[AMR][1000 genomes]
rs35665037	0.80[AMR][1000 genomes]
rs35684552	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35716153	0.80[AMR][1000 genomes]
rs35742712	0.80[AMR][1000 genomes]
rs35751491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35958887	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36063194	0.83[AMR][1000 genomes]
rs55639255	0.80[AMR][1000 genomes]
rs58321893	0.83[AMR][1000 genomes]
rs67410126	0.83[AMR][1000 genomes]
rs71449780	1.00[AFR][1000 genomes]
rs71449781	0.83[AMR][1000 genomes]
rs71449782	0.83[AMR][1000 genomes]
rs71449783	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71449788	0.89[AMR][1000 genomes]
rs71449789	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71449790	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71449791	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71449793	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71449794	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71449796	0.80[AMR][1000 genomes]
rs71449797	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71449802	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41285000-41304600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:41288400-41294800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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