Variant report

Variant	rs12616896
Chromosome Location	chr2:58476222-58476223
allele	G/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	POLR2A	chr2:58476198-58476257	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:58470992..58473115-chr2:58475772..58478288,2	K562	blood:
2	chr2:58465119..58467411-chr2:58475928..58478281,2	K562	blood:
3	chr2:58470871..58473115-chr2:58475772..58477795,2	K562	blood:
4	chr2:58475275..58477327-chr2:58514997..58517275,2	K562	blood:

Variant related genes	Relation type
EIF3FP3	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10184957	0.90[EUR][1000 genomes]
rs11903212	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12624152	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12713376	0.93[EUR][1000 genomes]
rs12988249	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13006005	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13017949	0.80[ASN][1000 genomes]
rs13023405	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13032851	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13410228	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13422760	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1404457	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1404459	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1404460	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34335951	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34556232	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35341336	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs35773188	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35925771	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3755296	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3771222	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55809167	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57267169	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61746304	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6709533	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6714952	0.90[EUR][1000 genomes]
rs6752935	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7558066	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7561771	1.00[EUR][1000 genomes];0.93[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	nsv999042	chr2:58326123-58530903	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv535734	chr2:58326123-58530903	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007527	chr2:58386271-58477536	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv535735	chr2:58386271-58477536	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv979333	chr2:58472786-58476569	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:0 , 50 per page) page:

No data

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