Variant report

Variant	rs72859363
Chromosome Location	chr4:75246112-75246113
allele	A/G
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:3)
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	chr4:75245358-75247217	U87	brain:	n/a	n/a
2	TAL1	chr4:75245539-75246579	K562	blood:	n/a	chr4:75245794-75245812
3	POLR2A	chr4:75243427-75247382	U87	brain:	n/a	n/a
4	JUND	chr4:75245341-75246921	HCT-116	colon:	n/a	n/a
5	POLR2A	chr4:75241190-75254074	HCT-116	colon:	n/a	n/a
6	TEAD4	chr4:75245385-75246156	K562	blood:	n/a	n/a
7	POLR2A	chr4:75245364-75251487	K562	blood:	n/a	n/a
8	SIN3AK20	chr4:75246065-75247015	HCT-116	colon:	n/a	n/a
9	POLR2A	chr4:75241188-75247382	U87	brain:	n/a	n/a
10	ZNF384	chr4:75245659-75246161	K562	blood:	n/a	n/a
11	POLR2A	chr4:75245395-75246396	HCT-116	colon:	n/a	n/a
12	ARID3A	chr4:75245709-75246129	K562	blood:	n/a	n/a
13	BCLAF1	chr4:75245339-75246390	K562	blood:	n/a	n/a
14	POLR2A	chr4:75238558-75255627	K562	blood:	n/a	n/a
15	RCOR1	chr4:75245555-75246117	K562	blood:	n/a	n/a
16	POLR2A	chr4:75245352-75247319	U87	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:75243039..75246605-chr4:75251008..75254702,4	MCF-7	breast:
2	chr4:75243054..75246948-chr4:75395050..75399502,5	MCF-7	breast:
3	chr4:75243767..75246769-chr4:75322171..75325345,3	MCF-7	breast:

No data

Variant related genes	Relation type
EREG	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10518126	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1460015	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57346142	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57839099	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57933408	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59107719	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59690065	0.89[EUR][1000 genomes]
rs60611827	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60972393	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61476105	0.89[EUR][1000 genomes]
rs61549491	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61597562	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61684000	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6831666	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6836436	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6837909	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859325	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859327	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859334	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859338	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859361	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859366	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668475	0.89[EUR][1000 genomes]
rs7669104	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7669542	0.89[EUR][1000 genomes]
rs7669666	0.89[EUR][1000 genomes]
rs7674887	0.89[EUR][1000 genomes]
rs7675690	0.95[EUR][1000 genomes];0.98[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:14 , 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	chr4:75241400-75260200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:75242400-75248200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:75242600-75252600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:75243200-75248400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:75244200-75255600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:75244600-75252400	Strong transcription	NHEK	skin
8	chr4:75244600-75253600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:75244800-75246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:75244800-75247000	Genic enhancers	A549	lung
11	chr4:75244800-75253600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:75245000-75253200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:75245800-75251800	Strong transcription	HMEC	breast
14	chr4:75246000-75246600	Enhancers	K562	blood

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