Variant report

Variant	rs4930983
Chromosome Location	chr12:31692711-31692712
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	MYC	chr12:31692711-31692754	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31692214..31692734-chr8:126444102..126444903,2	K562	blood:

Variant related genes	Relation type
ENSG00000225349	TF binding region
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1038066	0.85[EUR][1000 genomes]
rs1269139	0.80[EUR][1000 genomes]
rs12809140	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12812075	0.98[EUR][1000 genomes]
rs12816170	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12816386	0.88[EUR][1000 genomes]
rs12818749	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819062	0.90[EUR][1000 genomes]
rs12820294	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821808	0.98[EUR][1000 genomes]
rs12822601	0.93[EUR][1000 genomes]
rs12825207	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826193	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12831480	0.89[EUR][1000 genomes]
rs17497517	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497656	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497998	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126897	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34007930	0.88[EUR][1000 genomes]
rs34094545	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184789	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34271764	0.90[EUR][1000 genomes]
rs34308937	0.90[EUR][1000 genomes]
rs34450466	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs34585237	0.94[EUR][1000 genomes]
rs34642866	0.88[EUR][1000 genomes]
rs34667511	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34949976	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34955459	0.90[EUR][1000 genomes]
rs34986122	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35029695	0.92[EUR][1000 genomes]
rs35193529	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35545963	0.96[EUR][1000 genomes]
rs35567364	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35679974	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35692484	0.92[EUR][1000 genomes]
rs3850967	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4338625	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930981	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931485	0.81[EUR][1000 genomes]
rs4931498	0.96[EUR][1000 genomes]
rs4931503	0.98[EUR][1000 genomes]
rs4931504	0.98[EUR][1000 genomes]
rs4931510	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931518	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55635343	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55643034	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55771933	0.94[EUR][1000 genomes]
rs56183451	0.88[EUR][1000 genomes]
rs56234529	0.97[EUR][1000 genomes]
rs56282720	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409505	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66479670	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66520413	0.98[EUR][1000 genomes]
rs66552209	0.91[EUR][1000 genomes]
rs66597773	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66635949	0.96[EUR][1000 genomes]
rs67415228	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67963293	0.97[EUR][1000 genomes]
rs68030436	0.86[EUR][1000 genomes]
rs71455664	0.91[EUR][1000 genomes]
rs71455667	0.90[EUR][1000 genomes]
rs71455668	0.98[EUR][1000 genomes]
rs71455669	0.98[EUR][1000 genomes]
rs71455670	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71455671	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080503	0.88[EUR][1000 genomes]
rs73084486	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088505	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088597	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31685400-31700600	Weak transcription	Aorta	Aorta
2	chr12:31685400-31708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:31686800-31693200	Weak transcription	Fetal Intestine Small	intestine
4	chr12:31686800-31695600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:31689000-31713000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:31689200-31692800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:31689200-31694000	Weak transcription	Psoas Muscle	Psoas
8	chr12:31689200-31695800	Weak transcription	Ovary	ovary
9	chr12:31692600-31692800	ZNF genes & repeats	Fetal Heart	heart

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