Variant report

Variant	rs2114350
Chromosome Location	chr9:93231840-93231841
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	chr9:93231791-93232105	HepG2	liver:	n/a	chr9:93231962-93231976 chr9:93231961-93231977 chr9:93231959-93231979
2	MAFK	chr9:93231825-93232089	HepG2	liver:	n/a	chr9:93231962-93231976 chr9:93231961-93231977 chr9:93231959-93231979

Variant related genes	Relation type
ENSG00000229613	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10761373	0.87[CHB][hapmap]
rs10761380	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10761383	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821443	0.82[CHB][hapmap]
rs10821444	0.87[CHB][hapmap]
rs10821467	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10993468	0.87[CHB][hapmap]
rs10993469	0.87[CHB][hapmap]
rs10993499	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426507	0.89[CEU][hapmap];0.86[JPT][hapmap]
rs1529333	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1549508	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549509	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820465	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1989547	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2386543	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4142937	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6479595	0.87[CHB][hapmap]
rs7022730	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7029610	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7036826	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7858582	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7870764	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv482748	chr9:93123377-93279526	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv893565	chr9:93130796-93392332	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv614853	chr9:93183404-93266508	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv614854	chr9:93209923-93266508	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv893566	chr9:93209923-93439259	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93231600-93232800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:93231800-93232600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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