Variant report

Variant	rs34482675
Chromosome Location	chr12:41389296-41389297
allele	A/T
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:66)

rs_ID	r²[population]
rs11179721	0.95[AMR][1000 genomes]
rs11833511	0.91[AMR][1000 genomes]
rs12318791	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12321711	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12809592	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12811306	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812222	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812376	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813013	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12813644	1.00[AMR][1000 genomes]
rs12815418	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12816087	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821567	1.00[AMR][1000 genomes]
rs12821990	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12825145	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12825902	1.00[AMR][1000 genomes]
rs12828342	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828389	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12828796	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829787	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12833053	1.00[AMR][1000 genomes]
rs34016577	1.00[AMR][1000 genomes]
rs34128411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34180877	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34269753	0.95[AMR][1000 genomes]
rs34384075	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34403284	0.88[EUR][1000 genomes]
rs34483042	0.80[AMR][1000 genomes]
rs34554849	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34601389	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34622861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34739748	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34823642	1.00[AMR][1000 genomes]
rs35068475	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35135815	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35143604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35168538	1.00[AMR][1000 genomes]
rs35188176	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35243767	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35328876	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35414877	1.00[AMR][1000 genomes]
rs35450098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35462205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35582145	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35617364	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35636053	1.00[AMR][1000 genomes]
rs35665037	1.00[AMR][1000 genomes]
rs35684552	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35716153	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35742712	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35751491	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35862989	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35958887	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55639255	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71449786	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71449788	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71449789	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71449790	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71449791	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71449793	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71449794	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71449796	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71449797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71449802	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71451503	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71451512	1.00[AMR][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	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
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1042296	chr12:41372512-41401840	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41384600-41389400	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:41387600-41390600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:41387800-41389400	Weak transcription	NHEK	skin
5	chr12:41387800-41389800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:41389200-41389400	Enhancers	Rectal Smooth Muscle	rectum

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