Variant report

Variant	rs12502070
Chromosome Location	chr4:90027787-90027788
allele	C/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	CTCF	chr4:90027739-90027810	Lung_OC	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:90026718..90029366-chr4:90030525..90032807,2	MCF-7	breast:
2	chr4:90026203..90028605-chr4:90033601..90036574,2	K562	blood:
3	chr4:89442768..89444878-chr4:90027120..90029163,2	K562	blood:
4	chr4:90023640..90028371-chr4:90029997..90034270,7	K562	blood:

Variant related genes	Relation type
ENSG00000271359	TF binding region
ENSG00000271359	Chromatin interaction
ENSG00000138640	Chromatin interaction
ENSG00000255072	Chromatin interaction
ENSG00000180346	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10004795	0.92[ASN][1000 genomes]
rs10433948	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10433949	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11725938	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11726708	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11730277	0.86[AMR][1000 genomes]
rs12507131	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12647781	0.81[AMR][1000 genomes]
rs1533292	0.93[ASN][1000 genomes]
rs1533293	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3733448	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4367140	0.94[ASN][1000 genomes]
rs4627822	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56943497	0.84[AMR][1000 genomes]
rs58377799	0.86[AMR][1000 genomes]
rs59684168	0.81[AFR][1000 genomes]
rs59799062	0.93[ASN][1000 genomes]
rs60770708	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs61315828	0.83[AFR][1000 genomes]
rs62304448	0.93[ASN][1000 genomes]
rs66475381	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs66500341	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs66869930	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs67287708	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs67412466	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs67706608	0.95[ASN][1000 genomes]
rs67850063	0.81[AFR][1000 genomes]
rs6825998	0.93[ASN][1000 genomes]
rs6849540	0.93[ASN][1000 genomes]
rs72613157	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72877639	0.94[ASN][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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr4:90017200-90031600	Weak transcription	Right Atrium	heart
2	chr4:90021000-90029800	Weak transcription	Primary T cells from cord blood	blood
3	chr4:90024200-90031800	Weak transcription	Aorta	Aorta
4	chr4:90026600-90028400	Weak transcription	Pancreas	Pancrea

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