Variant report

Variant	rs1152479
Chromosome Location	chr14:56780909-56780910
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	chr14:56780606-56780945	HepG2	liver:	n/a	chr14:56780718-56780728 chr14:56780743-56780754 chr14:56780744-56780755 chr14:56780743-56780758 chr14:56780744-56780755 chr14:56780742-56780756

Variant related genes	Relation type
ENSG00000259483	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1023120	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1028973	0.81[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1152464	1.00[CEU][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1152466	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152471	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152477	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1152478	0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1152486	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1152488	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152493	0.94[EUR][1000 genomes]
rs1188689	0.81[EUR][1000 genomes]
rs1188691	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12589933	0.81[JPT][hapmap]
rs2228708	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2297610	0.82[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs242581	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs385141	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs6573085	0.89[JPT][hapmap]
rs7141949	0.81[JPT][hapmap]
rs7152487	0.84[CHD][hapmap]
rs7161274	0.82[CHB][hapmap]
rs754314	0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]
rs8014574	0.81[JPT][hapmap]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56764400-56785600	Weak transcription	Lung	lung
2	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
3	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
4	chr14:56768600-56784600	Weak transcription	Dnd41	blood
5	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:56778000-56782200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:56778200-56781200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:56778400-56797200	Weak transcription	Ovary	ovary
9	chr14:56778600-56781000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:56779400-56783400	Weak transcription	Aorta	Aorta
11	chr14:56780800-56791400	Weak transcription	Fetal Brain Female	brain

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