Variant report

Variant	rs59107719
Chromosome Location	chr4:75244431-75244432
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:75239405-75245347	U87	brain:	n/a	n/a
2	POLR2A	chr4:75243427-75247382	U87	brain:	n/a	n/a
3	POLR2A	chr4:75239411-75245187	U87	brain:	n/a	n/a
4	POLR2A	chr4:75241178-75245344	K562	blood:	n/a	n/a
5	RCOR1	chr4:75244378-75244685	K562	blood:	n/a	n/a
6	POLR2A	chr4:75241190-75254074	HCT-116	colon:	n/a	n/a
7	MAFK	chr4:75244396-75244636	IMR90	lung:	n/a	n/a
8	POLR2A	chr4:75244402-75244691	HCT-116	colon:	n/a	n/a
9	POLR2A	chr4:75241188-75247382	U87	brain:	n/a	n/a
10	ARID3A	chr4:75244009-75244807	K562	blood:	n/a	chr4:75244246-75244262 chr4:75244647-75244663 chr4:75244648-75244664
11	FOS	chr4:75244420-75244552	MCF10A-Er-Src	breast:	n/a	chr4:75244462-75244470 chr4:75244463-75244470
12	JUND	chr4:75244397-75244713	K562	blood:	n/a	chr4:75244462-75244470 chr4:75244463-75244470
13	EP300	chr4:75244344-75244661	K562	blood:	n/a	n/a
14	POLR2A	chr4:75238558-75255627	K562	blood:	n/a	n/a
15	BCLAF1	chr4:75243377-75245211	K562	blood:	n/a	n/a
16	POLR2A	chr4:75241290-75245913	A549	lung:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:75237376..75245686-chr4:75542486..75553167,38	MCF-7	breast:
2	chr4:75242903..75245454-chr4:75261986..75264008,2	MCF-7	breast:
3	chr4:75238775..75245761-chr4:75502353..75511633,27	MCF-7	breast:
4	chr4:75243039..75246605-chr4:75251008..75254702,4	MCF-7	breast:
5	chr4:75237356..75240485-chr4:75242482..75245521,3	MCF-7	breast:
6	chr4:75243973..75245559-chr4:75545258..75547326,2	MCF-7	breast:
7	chr4:75243054..75246948-chr4:75395050..75399502,5	MCF-7	breast:
8	chr4:75243767..75246769-chr4:75322171..75325345,3	MCF-7	breast:
9	chr4:75241409..75245016-chr4:75381716..75384369,3	MCF-7	breast:
10	chr4:75243705..75244464-chr4:75397121..75398185,3	MCF-7	breast:
11	chr4:75243850..75244696-chr4:75548200..75548949,3	K562	blood:
12	chr4:75237783..75245297-chr4:75502226..75511466,15	MCF-7	breast:
13	chr4:75240046..75244737-chr4:75409045..75413612,10	MCF-7	breast:
14	chr4:75242697..75245320-chr4:75245789..75249062,3	MCF-7	breast:
15	chr4:75241383..75245809-chr4:75253127..75255983,4	MCF-7	breast:
16	chr4:75240256..75244968-chr4:75576649..75579766,6	MCF-7	breast:
17	chr4:75241245..75244515-chr4:75557688..75560674,3	MCF-7	breast:
18	chr4:75234009..75245794-chr4:75391033..75405138,38	MCF-7	breast:

No data

Variant related genes	Relation type
EREG	TF binding region
ENSG00000124882	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10518126	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1460015	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694680	0.84[AFR][1000 genomes]
rs57346142	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57839099	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57933408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59690065	0.89[EUR][1000 genomes]
rs60611827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60972393	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61476105	0.89[EUR][1000 genomes]
rs61549491	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61597562	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61684000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6831666	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6836436	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6837909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72859325	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72859327	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72859333	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859334	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859338	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72859361	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859363	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859366	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7668475	0.89[EUR][1000 genomes]
rs7669104	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7669542	0.89[EUR][1000 genomes]
rs7669666	0.89[EUR][1000 genomes]
rs7674887	0.89[EUR][1000 genomes]
rs7675690	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7690224	0.89[EUR][1000 genomes]
rs7690629	0.89[EUR][1000 genomes]
rs7691008	0.89[EUR][1000 genomes]
rs7696072	0.89[EUR][1000 genomes]
rs7697009	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75240600-75255200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:75240800-75244800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:75241400-75260200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:75242400-75248200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:75242600-75244600	Genic enhancers	NHEK	skin
6	chr4:75242600-75252600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:75242800-75244800	Enhancers	HMEC	breast
8	chr4:75243200-75248400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:75243400-75244600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:75243600-75244800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:75244000-75244600	Enhancers	Osteobl	bone
12	chr4:75244000-75244800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:75244000-75245000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:75244200-75244800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:75244200-75255600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:75244400-75244600	Flanking Active TSS	K562	blood
17	chr4:75244400-75244800	Transcr. at gene 5' and 3'	A549	lung

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