Variant report

Variant	rs12306951
Chromosome Location	chr12:50008619-50008620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:50008427-50008627	A549	lung:	n/a	chr12:50008558-50008569

Variant related genes	Relation type
HIGD1AP9	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10128824	1.00[AMR][1000 genomes]
rs11169110	1.00[AMR][1000 genomes]
rs11169114	1.00[AMR][1000 genomes]
rs11169115	1.00[AMR][1000 genomes]
rs11169120	1.00[AMR][1000 genomes]
rs11169123	1.00[AMR][1000 genomes]
rs12297814	1.00[AMR][1000 genomes]
rs12299477	1.00[AMR][1000 genomes]
rs12299666	1.00[AMR][1000 genomes]
rs12299743	1.00[AMR][1000 genomes]
rs12299751	1.00[AMR][1000 genomes]
rs12300376	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12300919	1.00[EUR][1000 genomes]
rs12300962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12310580	1.00[AMR][1000 genomes]
rs12312112	1.00[AMR][1000 genomes]
rs12313657	1.00[AMR][1000 genomes]
rs12313681	1.00[AMR][1000 genomes]
rs12314036	1.00[AMR][1000 genomes]
rs12315508	1.00[AMR][1000 genomes]
rs12316175	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12317162	1.00[AMR][1000 genomes]
rs12319527	1.00[AMR][1000 genomes]
rs12320895	1.00[AMR][1000 genomes]
rs1317263	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17119738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123724	1.00[EUR][1000 genomes]
rs17123729	1.00[EUR][1000 genomes]
rs17123778	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17123787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17123827	1.00[AMR][1000 genomes]
rs17123879	1.00[AMR][1000 genomes]
rs17123924	1.00[AMR][1000 genomes]
rs57625108	1.00[EUR][1000 genomes]
rs58039341	1.00[EUR][1000 genomes]
rs61438877	1.00[EUR][1000 genomes]
rs73305101	1.00[EUR][1000 genomes]
rs73306844	1.00[EUR][1000 genomes]
rs73306846	1.00[EUR][1000 genomes]
rs73306864	1.00[EUR][1000 genomes]
rs73306865	1.00[EUR][1000 genomes]
rs73306875	1.00[EUR][1000 genomes]
rs73306891	1.00[EUR][1000 genomes]
rs73309004	1.00[EUR][1000 genomes]
rs73309010	1.00[EUR][1000 genomes]
rs73309013	1.00[EUR][1000 genomes]
rs73309017	1.00[EUR][1000 genomes]
rs73309026	1.00[EUR][1000 genomes]
rs9804867	1.00[AMR][1000 genomes]
rs9805090	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
4	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr12:49982600-50015400	Weak transcription	Pancreas	Pancrea
2	chr12:50003400-50010000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:50003800-50012600	Weak transcription	Adipose Nuclei	Adipose
4	chr12:50003800-50015400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:50006400-50010600	Weak transcription	Liver	Liver
6	chr12:50006800-50010200	Weak transcription	HepG2	liver

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