Variant report

Variant	rs7980318
Chromosome Location	chr12:41430482-41430483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12296475	0.81[EUR][1000 genomes]
rs12314872	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12321608	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12809837	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12811839	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12824182	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12826830	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13340830	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1442190	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157126	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs278900	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs278901	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs278902	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs278906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278909	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280355	0.85[EUR][1000 genomes]
rs280356	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs280357	0.82[ASN][1000 genomes]
rs280359	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280360	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280361	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280362	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794251	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56695779	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59142970	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs692211	0.85[EUR][1000 genomes]
rs693762	0.85[EUR][1000 genomes]
rs7305416	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9652040	0.81[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	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	chr12:41408200-41449800	Weak transcription	Brain Anterior Caudate	brain
2	chr12:41409000-41435000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:41429000-41469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:41430000-41430800	Enhancers	Colon Smooth Muscle	Colon

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