Variant report

Variant	rs72950756
Chromosome Location	chr3:110615958-110615959
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	chr3:110615947-110616279	HepG2	liver:	n/a	chr3:110616068-110616084 chr3:110616068-110616079 chr3:110616068-110616079 chr3:110616068-110616083 chr3:110616067-110616081
2	POLR2A	chr3:110615777-110616004	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000206532	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11918093	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1462803	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16857288	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16857301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16857306	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1871025	0.90[AMR][1000 genomes]
rs57264383	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58065447	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58870426	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59417953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61049752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61348188	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6773723	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6803513	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6805390	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948735	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948745	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948746	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948776	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948779	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948780	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948781	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72948797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950720	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72950758	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7634941	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1014199	chr3:110293896-110754155	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2762345	chr3:110614389-110668843	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110607800-110619600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:110608200-110618400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:110611400-110628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:110612600-110635600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:110614200-110621200	Weak transcription	Liver	Liver

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