Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:77210466-77210556	GM12878	blood:	n/a	n/a
2	EBF1	chr2:77210423-77210722	GM12878	blood:	n/a	chr2:77210564-77210575

Variant related genes	Relation type
ENSG00000234653	TF binding region

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12713886	1.00[ASN][1000 genomes]
rs12987907	0.82[JPT][hapmap]
rs12992834	0.82[CHB][hapmap]
rs13388552	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13406560	0.86[ASN][1000 genomes]
rs1348828	0.82[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1348829	0.86[ASN][1000 genomes]
rs1374393	0.91[CHB][hapmap]
rs1374394	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1446700	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1446704	0.82[JPT][hapmap]
rs1446706	0.91[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs1446717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17013458	0.95[CHB][hapmap]
rs17013592	0.82[JPT][hapmap]
rs17013595	0.82[JPT][hapmap]
rs17013615	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs17040500	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs17089	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs1921625	0.87[CHB][hapmap]
rs1950122	0.91[CHB][hapmap]
rs2197603	0.80[JPT][hapmap]
rs35458070	0.86[ASN][1000 genomes]
rs4853290	0.91[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs58758157	0.84[ASN][1000 genomes]
rs58852194	0.84[ASN][1000 genomes]
rs6547113	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6706194	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6739222	0.80[JPT][hapmap]
rs6741095	0.86[ASN][1000 genomes]
rs914389	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77206200-77211200	Weak transcription	HUVEC	blood vessel
2	chr2:77206600-77211600	Weak transcription	Fetal Lung	lung
3	chr2:77206800-77211600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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