Variant report

Variant	rs3751173
Chromosome Location	chr12:40951961-40951962
allele	C/G
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	chr12:40951825-40952138	HepG2	liver:	n/a	chr12:40951963-40951979 chr12:40951963-40951974 chr12:40951963-40951978 chr12:40951963-40951974 chr12:40952001-40952012 chr12:40952000-40952014 chr12:40951962-40951976 chr12:40952001-40952016 chr12:40952001-40952017 chr12:40952001-40952012
2	MAFK	chr12:40951816-40952154	HepG2	liver:	n/a	chr12:40951963-40951979 chr12:40951963-40951974 chr12:40951963-40951978 chr12:40951963-40951974 chr12:40952001-40952012 chr12:40952000-40952014 chr12:40951962-40951976 chr12:40952001-40952016 chr12:40952001-40952017 chr12:40952001-40952012
3	MAFF	chr12:40951822-40952138	HepG2	liver:	n/a	chr12:40951999-40952017 chr12:40951961-40951979

Variant related genes	Relation type
RNU6-713P	TF binding region

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10083205	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878851	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878852	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878853	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878854	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878859	0.96[ASN][1000 genomes]
rs11177164	0.81[ASN][1000 genomes]
rs11177178	0.98[ASN][1000 genomes]
rs11177226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11177288	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11177343	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11177424	0.90[ASN][1000 genomes]
rs11177431	0.88[ASN][1000 genomes]
rs11177433	0.90[ASN][1000 genomes]
rs1602635	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs56080664	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61913722	0.96[ASN][1000 genomes]
rs7303283	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7304371	0.98[ASN][1000 genomes]
rs7955772	0.98[ASN][1000 genomes]
rs7962990	0.90[ASN][1000 genomes]
rs7971126	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7972739	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7974188	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv683	chr12:40951473-40996258	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:40947400-40967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40951800-40952200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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