Variant report

Variant	rs72809046
Chromosome Location	chr2:76675845-76675846
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	chr2:76675844-76675984	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RN7SKP203	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10496204	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10519330	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11126536	0.91[ASN][1000 genomes]
rs11126537	0.91[ASN][1000 genomes]
rs11126538	0.91[ASN][1000 genomes]
rs11679162	0.91[ASN][1000 genomes]
rs12474459	0.91[ASN][1000 genomes]
rs12623421	0.92[ASN][1000 genomes]
rs13002864	0.89[ASN][1000 genomes]
rs13011427	0.91[ASN][1000 genomes]
rs13012727	0.91[ASN][1000 genomes]
rs13033650	0.91[ASN][1000 genomes]
rs13034021	0.84[ASN][1000 genomes]
rs17012831	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17491623	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17517504	0.91[ASN][1000 genomes]
rs2091716	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2178519	0.82[ASN][1000 genomes]
rs2178520	1.00[ASN][1000 genomes]
rs2222848	0.95[ASN][1000 genomes]
rs2860769	0.99[ASN][1000 genomes]
rs2860770	1.00[ASN][1000 genomes]
rs34117684	0.83[ASN][1000 genomes]
rs34475125	0.91[ASN][1000 genomes]
rs35041598	0.91[ASN][1000 genomes]
rs35289637	0.91[ASN][1000 genomes]
rs35683467	0.83[ASN][1000 genomes]
rs35822600	0.91[ASN][1000 genomes]
rs36064715	0.91[ASN][1000 genomes]
rs4306737	0.82[ASN][1000 genomes]
rs55718418	0.95[ASN][1000 genomes]
rs55765515	0.91[ASN][1000 genomes]
rs55799622	0.92[ASN][1000 genomes]
rs60507784	0.89[ASN][1000 genomes]
rs62166048	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62167487	0.91[ASN][1000 genomes]
rs62167489	0.90[ASN][1000 genomes]
rs6547087	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6738224	0.80[ASN][1000 genomes]
rs72809040	0.98[ASN][1000 genomes]
rs72809043	0.98[ASN][1000 genomes]
rs72809050	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72809069	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72810811	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72810819	0.91[ASN][1000 genomes]
rs72810824	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7422459	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7424489	0.99[ASN][1000 genomes]
rs7585094	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	esv2757809	chr2:76541920-76705354	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2759064	chr2:76541920-76705354	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv874317	chr2:76554077-76890567	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013614	chr2:76624220-76715121	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv582227	chr2:76662404-76712789	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr2:76659200-76677000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:76674800-76677000	Weak transcription	GM12878-XiMat	blood
3	chr2:76674800-76677400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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