Variant report

Variant	rs4240263
Chromosome Location	chr4:122683623-122683624
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	STAT3	chr4:122683501-122683679	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr4:122683453-122683678	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr4:122683522-122684038	SK-N-SH_RA	brain:	n/a	n/a
4	STAT3	chr4:122683535-122683741	MCF10A-Er-Src	breast:	n/a	chr4:122683674-122683685 chr4:122683689-122683697
5	EP300	chr4:122683542-122683999	SK-N-SH_RA	brain:	n/a	n/a
6	FOS	chr4:122683573-122683702	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr4:122683502-122683723	MCF10A-Er-Src	breast:	n/a	chr4:122683674-122683685 chr4:122683689-122683697

Variant related genes	Relation type
ENSG00000226757	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10001092	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10001697	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10001889	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10004284	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10007956	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10012775	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10013916	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10020581	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10023020	0.90[AFR][1000 genomes]
rs10024878	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10028375	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10084948	0.95[AFR][1000 genomes]
rs10212738	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1048433	0.95[AFR][1000 genomes]
rs11098640	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098641	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098643	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11724322	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11734075	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11934307	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12510839	1.00[AFR][1000 genomes]
rs13104233	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13106764	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13108419	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13113338	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13113421	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13114801	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13117282	0.89[AFR][1000 genomes]
rs13119055	1.00[AFR][1000 genomes]
rs13127488	0.89[AFR][1000 genomes]
rs13128434	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13130789	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs13140070	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13145558	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13152701	1.00[AFR][1000 genomes]
rs28394772	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28435300	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28522256	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28615388	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28672860	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs3217772	1.00[AFR][1000 genomes]
rs34445121	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35341163	0.90[AFR][1000 genomes]
rs35495505	1.00[AFR][1000 genomes]
rs3762840	1.00[AFR][1000 genomes]
rs4075065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240262	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4240264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4315813	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4361412	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4455438	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4516738	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4833232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833234	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4833235	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4833236	0.90[AFR][1000 genomes]
rs4833769	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4833770	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4833773	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4833775	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs67150579	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs67775544	1.00[AFR][1000 genomes]
rs6822155	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6827573	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6828650	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7676867	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs769236	1.00[AFR][1000 genomes]
rs7698889	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7699289	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs951974	0.89[AFR][1000 genomes]
rs966555	0.90[AFR][1000 genomes]
rs9993206	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9995319	1.00[AFR][1000 genomes]
rs9995322	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9998385	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9998785	1.00[AFR][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4240263	CCNA2	Cis_1M	lymphoblastoid	RTeQTL
rs4240263	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122674000-122684800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:122680600-122685600	Weak transcription	Osteobl	bone
3	chr4:122680800-122685000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:122682000-122684200	Enhancers	Fetal Heart	heart
5	chr4:122682600-122684800	Weak transcription	Placenta	Placenta
6	chr4:122683400-122683800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:122683600-122683800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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