Variant report

Variant	rs12509747
Chromosome Location	chr4:90027769-90027770
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	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
ENSG00000180346	Chromatin interaction
ENSG00000138640	Chromatin interaction
ENSG00000255072	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10009665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097214	0.94[ASN][1000 genomes]
rs11097215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12641645	0.88[ASN][1000 genomes]
rs12643834	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12644568	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12646713	0.94[ASN][1000 genomes]
rs12646734	0.94[ASN][1000 genomes]
rs13124770	0.94[ASN][1000 genomes]
rs13148714	0.88[ASN][1000 genomes]
rs1355835	0.88[ASN][1000 genomes]
rs1355838	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1513821	0.87[ASN][1000 genomes]
rs1708674	0.87[ASN][1000 genomes]
rs1795731	0.87[ASN][1000 genomes]
rs1795732	0.87[ASN][1000 genomes]
rs2037036	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2037037	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2458546	0.80[ASN][1000 genomes]
rs2458547	0.80[ASN][1000 genomes]
rs2464517	0.87[ASN][1000 genomes]
rs2670625	0.88[ASN][1000 genomes]
rs2704597	0.87[ASN][1000 genomes]
rs2869987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869990	0.88[ASN][1000 genomes]
rs4634189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693221	0.84[ASN][1000 genomes]
rs4693983	0.90[ASN][1000 genomes]
rs6532099	0.83[ASN][1000 genomes]
rs6532109	0.86[ASN][1000 genomes]
rs6532112	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833401	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6833424	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6833576	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6835031	0.90[ASN][1000 genomes]
rs6854285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665891	0.87[ASN][1000 genomes]
rs7440590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756175	0.90[ASN][1000 genomes]
rs756176	0.90[ASN][1000 genomes]
rs7691983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696844	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938264	0.90[ASN][1000 genomes]
rs938268	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991151	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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