Variant report

Variant	rs11179721
Chromosome Location	chr12:41469811-41469812
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11180400	0.85[YRI][hapmap]
rs11180403	0.85[YRI][hapmap]
rs11833511	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297536	0.93[AFR][1000 genomes]
rs12298867	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12300315	0.86[AFR][1000 genomes]
rs12306182	0.83[YRI][hapmap]
rs12313213	0.83[YRI][hapmap]
rs12317880	0.85[YRI][hapmap]
rs12318791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12321711	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12809592	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12811306	0.90[AMR][1000 genomes]
rs12812222	0.90[AMR][1000 genomes]
rs12812376	0.90[AMR][1000 genomes]
rs12813013	0.86[AMR][1000 genomes]
rs12813644	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815418	0.86[AMR][1000 genomes]
rs12816087	0.90[AMR][1000 genomes]
rs12821567	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12821990	1.00[CEU][hapmap];0.86[AMR][1000 genomes]
rs12825145	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12825902	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12828342	0.86[AMR][1000 genomes]
rs12828389	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12828796	0.86[AMR][1000 genomes]
rs12829787	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12833053	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34016577	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34128411	0.95[AMR][1000 genomes]
rs34180877	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34269753	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34384075	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34482675	0.95[AMR][1000 genomes]
rs34554849	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34601389	0.86[AMR][1000 genomes]
rs34622861	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34739748	0.86[AMR][1000 genomes]
rs34823642	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35068475	0.90[AMR][1000 genomes]
rs35135815	0.95[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35143604	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35168538	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35188176	0.86[AMR][1000 genomes]
rs35243767	0.86[AMR][1000 genomes]
rs35328876	0.90[AMR][1000 genomes]
rs35414877	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35450098	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35462205	0.90[AMR][1000 genomes]
rs35617364	0.86[AMR][1000 genomes]
rs35636053	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35665037	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35684552	0.86[AMR][1000 genomes]
rs35716153	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35742712	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35862989	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35958887	0.86[AMR][1000 genomes]
rs55639255	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71449788	0.86[AMR][1000 genomes]
rs71449789	0.86[AMR][1000 genomes]
rs71449790	0.90[AMR][1000 genomes]
rs71449791	0.90[AMR][1000 genomes]
rs71449793	0.90[AMR][1000 genomes]
rs71449794	0.90[AMR][1000 genomes]
rs71449796	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs71449797	0.95[AMR][1000 genomes]
rs71449802	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71451503	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71451512	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
4	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
5	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr12:41458000-41474000	Weak transcription	Ovary	ovary
2	chr12:41469600-41470200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:41469600-41470200	Enhancers	NHEK	skin
4	chr12:41469600-41470800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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