Variant report

Variant	rs57969550
Chromosome Location	chr2:100131734-100131735
allele	A/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	chr2:100131429-100131798	HepG2	liver:	n/a	chr2:100131613-100131624
2	CEBPB	chr2:100131425-100131793	K562	blood:	n/a	chr2:100131613-100131624
3	FOS	chr2:100131437-100131763	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr2:100131431-100131809	IMR90	lung:	n/a	chr2:100131613-100131624
5	CEBPB	chr2:100131434-100131918	A549	lung:	n/a	chr2:100131613-100131624
6	STAT3	chr2:100131456-100131916	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr2:100131458-100131790	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr2:100131456-100131861	ECC-1	luminal epithelium:	n/a	chr2:100131613-100131624
9	STAT3	chr2:100131432-100131812	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:100131444-100131803	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr2:100131441-100131790	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr2:100131456-100131773	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr2:100131505-100131771	MCF-7	breast:	n/a	chr2:100131613-100131624
14	MYC	chr2:100131505-100131765	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr2:100131518-100131797	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr2:100131416-100131816	Hela-S3	cervix:	n/a	chr2:100131613-100131624
17	CEBPB	chr2:100131473-100131772	H1-hESC	embryonic stem cell:	n/a	chr2:100131613-100131624
18	CEBPB	chr2:100131511-100131914	MCF-7	breast:	n/a	chr2:100131613-100131624
19	CEBPB	chr2:100131519-100131792	A549	lung:	n/a	chr2:100131613-100131624
20	STAT3	chr2:100131479-100131922	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr2:100131456-100131774	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr2:100131465-100131784	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr2:100131439-100131796	A549	lung:	n/a	chr2:100131613-100131624

Variant related genes	Relation type
ENSG00000222274	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17022741	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022788	0.83[EUR][1000 genomes]
rs2167339	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3087387	0.83[AMR][1000 genomes]
rs56684522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093686	0.83[AMR][1000 genomes]
rs57599963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668619	0.83[EUR][1000 genomes]
rs58226642	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58780429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59311105	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59753430	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59859749	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60633946	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707685	0.83[AMR][1000 genomes]
rs6723062	0.83[AMR][1000 genomes]
rs6745673	0.83[EUR][1000 genomes]
rs6761053	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761507	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964150	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964151	1.00[AMR][1000 genomes]
rs73964152	0.83[AMR][1000 genomes]
rs73964155	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964157	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964158	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964166	0.83[EUR][1000 genomes]
rs7568990	0.83[AMR][1000 genomes]
rs7570405	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571186	0.83[AMR][1000 genomes]
rs7595242	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:100130400-100132600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr2:100130800-100132000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:100130800-100132000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr2:100131600-100132000	Enhancers	Fetal Lung	lung

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