Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:167177445-167177826	HepG2	liver:	n/a	chr5:167177743-167177763 chr5:167177745-167177761 chr5:167177746-167177760 chr5:167177750-167177759

Variant related genes	Relation type
TENM2	TF binding region

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10050810	0.84[JPT][hapmap]
rs10057680	0.84[JPT][hapmap]
rs10079574	0.89[JPT][hapmap]
rs1023629	0.89[CEU][hapmap];0.93[CHB][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10516037	0.90[JPT][hapmap]
rs11134469	0.84[EUR][1000 genomes]
rs12188727	0.90[ASW][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17069080	0.93[CHB][hapmap]
rs17069150	0.93[CHB][hapmap]
rs17069217	0.85[EUR][1000 genomes]
rs17432815	0.81[ASW][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs17511302	0.81[TSI][hapmap]
rs17512123	0.87[TSI][hapmap]
rs2878866	0.81[TSI][hapmap]
rs3749800	0.93[CHB][hapmap]
rs57873364	0.84[EUR][1000 genomes]
rs58847998	0.87[EUR][1000 genomes]
rs59682785	0.88[EUR][1000 genomes]
rs60893801	0.95[ASN][1000 genomes]
rs6869161	0.87[EUR][1000 genomes]
rs6873862	0.86[CHB][hapmap]
rs6880473	0.85[EUR][1000 genomes]
rs719254	0.93[CHB][hapmap]
rs73801366	0.95[ASN][1000 genomes]
rs73801394	0.82[EUR][1000 genomes]
rs73801401	0.85[EUR][1000 genomes]
rs73803207	0.84[EUR][1000 genomes]
rs73803208	0.85[EUR][1000 genomes]
rs73803212	0.85[EUR][1000 genomes]
rs73803215	0.88[EUR][1000 genomes]
rs7725172	0.81[EUR][1000 genomes]
rs7725488	0.81[EUR][1000 genomes]
rs7736577	0.81[TSI][hapmap]
rs918794	0.84[EUR][1000 genomes]
rs918795	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167171000-167181200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:167171600-167181800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167171800-167180000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167171800-167180000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:167172400-167180400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:167177200-167178200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:167177200-167179000	Enhancers	HSMM	muscle
8	chr5:167177400-167178800	Enhancers	Muscle Satellite Cultured Cells	--

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