Variant report

Variant	rs60779750
Chromosome Location	chr2:114437989-114437990
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	chr2:114435670-114438889	K562	blood:	n/a	n/a
2	POLR2A	chr2:114437887-114438841	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
RNU6-744P	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11883963	0.81[AFR][1000 genomes]
rs11891411	1.00[EUR][1000 genomes]
rs11891462	1.00[EUR][1000 genomes]
rs12105197	1.00[EUR][1000 genomes]
rs13384052	1.00[EUR][1000 genomes]
rs17048352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55898668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926723	1.00[EUR][1000 genomes]
rs55952342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58242493	1.00[EUR][1000 genomes]
rs59403353	1.00[EUR][1000 genomes]
rs60313988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60896642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61113571	1.00[EUR][1000 genomes]
rs61179082	1.00[EUR][1000 genomes]
rs61704468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743688	1.00[EUR][1000 genomes]
rs72948697	1.00[EUR][1000 genomes]
rs73955093	1.00[EUR][1000 genomes]
rs73955096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73955101	1.00[EUR][1000 genomes]
rs73955102	1.00[EUR][1000 genomes]
rs73957403	1.00[EUR][1000 genomes]
rs73957404	1.00[EUR][1000 genomes]
rs73957406	1.00[EUR][1000 genomes]
rs73957408	1.00[EUR][1000 genomes]
rs7589738	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv979109	chr2:114429638-114495192	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv979339	chr2:114430138-114495192	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114437000-114438000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:114437000-114438000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:114437600-114438400	Enhancers	Fetal Lung	lung
4	chr2:114437600-114443000	Weak transcription	K562	blood

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