Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:145448273-145448473	H1-hESC	embryonic stem cell:	n/a	chr2:145448355-145448364

Variant related genes	Relation type
ENSG00000234940	TF binding region

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11685274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11687464	1.00[AFR][1000 genomes]
rs11689322	0.96[EUR][1000 genomes]
rs11691685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4384720	0.93[EUR][1000 genomes]
rs66537831	1.00[EUR][1000 genomes]
rs6718158	0.96[EUR][1000 genomes]
rs67382063	0.91[EUR][1000 genomes]
rs6752912	0.85[EUR][1000 genomes]
rs6756405	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67963154	0.82[EUR][1000 genomes]
rs68017203	1.00[EUR][1000 genomes]
rs72850698	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72852115	0.96[EUR][1000 genomes]
rs72852118	0.96[EUR][1000 genomes]
rs72852120	0.96[EUR][1000 genomes]
rs72852122	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72852128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72852130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72852133	1.00[EUR][1000 genomes]
rs72852137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72852150	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72852199	1.00[AFR][1000 genomes]
rs72853207	1.00[AFR][1000 genomes]
rs72853210	1.00[AFR][1000 genomes]
rs72853253	1.00[AFR][1000 genomes]
rs7595770	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:145438800-145452800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:145445600-145449000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:145446000-145449600	Enhancers	Monocytes-CD14+_RO01746	blood

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