Variant report

Variant	rs12045533
Chromosome Location	chr1:184970511-184970512
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	CEBPB	chr1:184970232-184970858	Hela-S3	cervix:	n/a	chr1:184970383-184970394 chr1:184970384-184970393 chr1:184970382-184970393
2	CEBPB	chr1:184970322-184970522	HepG2	liver:	n/a	chr1:184970383-184970394 chr1:184970384-184970393 chr1:184970382-184970393
3	CEBPB	chr1:184970245-184970516	K562	blood:	n/a	chr1:184970383-184970394 chr1:184970384-184970393 chr1:184970382-184970393
4	RAD21	chr1:184970497-184970577	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000260976	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10429841	0.90[AMR][1000 genomes]
rs10489582	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12023631	0.88[ASN][1000 genomes]
rs12024255	1.00[EUR][1000 genomes]
rs12026308	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12033761	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12037199	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12038977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12041641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16823734	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823739	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2025228	1.00[EUR][1000 genomes]
rs2144664	0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34769115	0.90[AMR][1000 genomes]
rs3737948	1.00[GIH][hapmap]
rs41377350	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs57266144	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61146985	1.00[AMR][1000 genomes]
rs61379702	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61537994	1.00[EUR][1000 genomes]
rs61573899	1.00[EUR][1000 genomes]
rs6662843	1.00[GIH][hapmap]
rs6698620	1.00[EUR][1000 genomes]
rs7540216	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2764198	chr1:184961804-184970511	Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184970400-184970600	Active TSS	K562	blood
2	chr1:184970400-184971000	Active TSS	Hela-S3	cervix

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