Variant report

Variant	rs72859338
Chromosome Location	chr4:75239036-75239037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:75222983..75225246-chr4:75236606..75239219,2	MCF-7	breast:
2	chr4:75237376..75245686-chr4:75542486..75553167,38	MCF-7	breast:
3	chr4:75192372..75204703-chr4:75227413..75239566,26	K562	blood:
4	chr4:75238775..75245761-chr4:75502353..75511633,27	MCF-7	breast:
5	chr4:75236693..75239606-chr4:75255900..75260802,4	K562	blood:
6	chr4:75231359..75240256-chr4:75240969..75248990,20	K562	blood:
7	chr4:75238903..75241621-chr4:75337215..75339226,2	MCF-7	breast:
8	chr4:75188724..75190900-chr4:75238906..75240715,2	MCF-7	breast:
9	chr4:75186018..75191874-chr4:75238287..75242590,7	MCF-7	breast:
10	chr4:75237927..75239436-chr4:75241064..75242696,2	K562	blood:
11	chr4:75237356..75240485-chr4:75242482..75245521,3	MCF-7	breast:
12	chr4:75236864..75239788-chr4:75573730..75576650,3	MCF-7	breast:
13	chr4:75237783..75245297-chr4:75502226..75511466,15	MCF-7	breast:
14	chr4:75238241..75243547-chr4:75594980..75599981,10	MCF-7	breast:
15	chr4:75234462..75244182-chr4:75405315..75413749,23	MCF-7	breast:
16	chr4:75234009..75245794-chr4:75391033..75405138,38	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124882	Chromatin interaction
ENSG00000265720	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1460015	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694680	0.85[AFR][1000 genomes]
rs57346142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57839099	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57933408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59107719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59690065	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60611827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60972393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61476105	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61549491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61597562	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61684000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831666	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6836436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6837909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859333	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72859334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72859361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859363	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7668475	1.00[EUR][1000 genomes]
rs7669104	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7669542	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7669666	1.00[EUR][1000 genomes]
rs7674887	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7675690	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7690224	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7690629	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7691008	1.00[EUR][1000 genomes]
rs7696072	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7697009	1.00[EUR][1000 genomes];0.82[ASN][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75231800-75239600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:75231800-75240000	Weak transcription	Esophagus	oesophagus
3	chr4:75233600-75239600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:75234000-75239800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:75234600-75239600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:75234600-75240000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:75235200-75240000	Weak transcription	Fetal Intestine Small	intestine
8	chr4:75236800-75239600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:75237000-75241400	Weak transcription	Fetal Intestine Large	intestine
10	chr4:75237600-75240000	Weak transcription	Stomach Mucosa	stomach
11	chr4:75237600-75240600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:75237800-75239200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:75237800-75239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:75238200-75239600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:75238200-75239600	Weak transcription	HMEC	breast
16	chr4:75238400-75239600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:75238800-75239400	Enhancers	NHEK	skin
18	chr4:75239000-75239200	Enhancers	A549	lung

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