Variant report

Variant	rs10880127
Chromosome Location	chr12:42095022-42095023
allele	C/T
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	MAFK	chr12:42094757-42095116	HepG2	liver:	n/a	chr12:42094933-42094947 chr12:42094930-42094950 chr12:42094932-42094948
2	MAFK	chr12:42094771-42095103	IMR90	lung:	n/a	chr12:42094933-42094947 chr12:42094930-42094950 chr12:42094932-42094948
3	MAFK	chr12:42094775-42095119	HepG2	liver:	n/a	chr12:42094933-42094947 chr12:42094930-42094950 chr12:42094932-42094948
4	MAFF	chr12:42094794-42095089	HepG2	liver:	n/a	chr12:42094933-42094947 chr12:42094927-42094945
5	GATA2	chr12:42095021-42095341	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
MTND2P17	TF binding region
MTND1P24	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1020534	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431602	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431603	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880113	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10880114	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880115	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880119	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880120	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880125	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880128	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880129	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181079	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181094	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181095	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181102	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181121	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181124	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181125	0.88[ASN][1000 genomes]
rs12424951	0.81[EUR][1000 genomes]
rs12424962	0.91[ASN][1000 genomes]
rs12425224	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12425905	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17593985	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs287013	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35306460	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73284165	0.83[EUR][1000 genomes]
rs7956041	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963993	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	nsv899040	chr12:41905897-42181706	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv832386	chr12:42017259-42189476	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv558701	chr12:42038171-42105409	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42094400-42095200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:42094400-42095200	Enhancers	Psoas Muscle	Psoas
3	chr12:42095000-42095200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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