Variant report

Variant	rs9919749
Chromosome Location	chr12:74679955-74679956
allele	A/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	POLR2A	chr12:74679445-74680609	K562	blood:	n/a	n/a
2	STAT3	chr12:74679528-74679959	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:74679493-74679971	MCF10A-Er-Src	breast:	n/a	n/a
4	TEAD4	chr12:74679615-74680034	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000257183	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506691	1.00[EUR][1000 genomes]
rs11179924	1.00[AMR][1000 genomes]
rs11179938	1.00[AMR][1000 genomes]
rs11179961	1.00[AMR][1000 genomes]
rs11179988	1.00[EUR][1000 genomes]
rs11179989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11503770	1.00[AMR][1000 genomes]
rs12297190	1.00[AMR][1000 genomes]
rs12299538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12307332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317803	1.00[EUR][1000 genomes]
rs12318521	1.00[EUR][1000 genomes]
rs12320395	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1522126	1.00[EUR][1000 genomes]
rs17113226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1982597	1.00[EUR][1000 genomes]
rs59771966	1.00[EUR][1000 genomes]
rs59917367	1.00[EUR][1000 genomes]
rs7133693	1.00[EUR][1000 genomes]
rs7315551	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73335503	1.00[EUR][1000 genomes]
rs73350030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350835	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73350901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73352806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73352828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74105463	1.00[EUR][1000 genomes]
rs74106716	1.00[EUR][1000 genomes]
rs7961059	1.00[EUR][1000 genomes]
rs7971410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9652042	1.00[AMR][1000 genomes]
rs980785	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv520257	chr12:74590356-74680999	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74679200-74680000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:74679200-74680000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:74679200-74681400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:74679400-74680400	Enhancers	K562	blood
5	chr12:74679600-74680200	Enhancers	HMEC	breast
6	chr12:74679800-74680200	Enhancers	NHEK	skin

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