Variant report

Variant	rs60611827
Chromosome Location	chr4:75243045-75243046
allele	G/T
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:75241948..75243429-chr4:75397291..75398447,13	MCF-7	breast:
2	chr4:75239196..75243230-chr4:75546386..75550750,8	MCF-7	breast:
3	chr4:75242581..75243200-chr4:75600520..75601238,3	K562	blood:
4	chr4:75242203..75243157-chr4:75548028..75548649,2	MCF-7	breast:
5	chr4:75237376..75245686-chr4:75542486..75553167,38	MCF-7	breast:
6	chr4:75242903..75245454-chr4:75261986..75264008,2	MCF-7	breast:
7	chr4:75238775..75245761-chr4:75502353..75511633,27	MCF-7	breast:
8	chr4:75242050..75244304-chr4:75395919..75398280,2	K562	blood:
9	chr4:75243039..75246605-chr4:75251008..75254702,4	MCF-7	breast:
10	chr4:75241724..75243443-chr4:75345490..75348192,2	MCF-7	breast:
11	chr4:75239500..75243798-chr4:75584318..75589677,7	MCF-7	breast:
12	chr4:75237356..75240485-chr4:75242482..75245521,3	MCF-7	breast:
13	chr4:75234266..75236850-chr4:75240881..75243541,4	MCF-7	breast:
14	chr4:75242686..75244334-chr4:75394035..75395662,2	K562	blood:
15	chr4:75241361..75243150-chr4:75577908..75580165,2	MCF-7	breast:
16	chr4:75242213..75243122-chr4:75600688..75601211,2	MCF-7	breast:
17	chr4:75241409..75245016-chr4:75381716..75384369,3	MCF-7	breast:
18	chr4:75240908..75243125-chr4:75420937..75424143,3	MCF-7	breast:
19	chr4:75184788..75188448-chr4:75240732..75243292,5	MCF-7	breast:
20	chr4:75240453..75243045-chr4:75401628..75403138,2	MCF-7	breast:
21	chr4:75195893..75197465-chr4:75242238..75243930,2	K562	blood:
22	chr4:75237783..75245297-chr4:75502226..75511466,15	MCF-7	breast:
23	chr4:75238241..75243547-chr4:75594980..75599981,10	MCF-7	breast:
24	chr4:75240046..75244737-chr4:75409045..75413612,10	MCF-7	breast:
25	chr4:75242334..75243299-chr4:75397316..75398222,6	K562	blood:
26	chr4:75239348..75243782-chr4:75542387..75546294,5	MCF-7	breast:
27	chr4:75242697..75245320-chr4:75245789..75249062,3	MCF-7	breast:
28	chr4:75241383..75245809-chr4:75253127..75255983,4	MCF-7	breast:
29	chr4:75240256..75244968-chr4:75576649..75579766,6	MCF-7	breast:
30	chr4:75234462..75244182-chr4:75405315..75413749,23	MCF-7	breast:
31	chr4:75241245..75244515-chr4:75557688..75560674,3	MCF-7	breast:
32	chr4:75234009..75245794-chr4:75391033..75405138,38	MCF-7	breast:

No data

Variant related genes	Relation type
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1460015	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4694680	0.85[AFR][1000 genomes]
rs57346142	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57839099	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57933408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59107719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59690065	0.89[EUR][1000 genomes]
rs60972393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61476105	0.89[EUR][1000 genomes]
rs61549491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61597562	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61684000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6831666	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6836436	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6837909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859333	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859363	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668475	0.89[EUR][1000 genomes]
rs7669104	0.87[AFR][1000 genomes];1.00[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	0.81[AMR][1000 genomes];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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75239800-75243600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:75240200-75243200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:75240600-75255200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:75240800-75244200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:75240800-75244800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:75241400-75243400	Enhancers	HSMM	muscle
7	chr4:75241400-75260200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:75241600-75243600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:75242000-75244000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:75242200-75243200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:75242200-75243600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:75242400-75243400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:75242400-75248200	Weak transcription	Fetal Intestine Large	intestine
14	chr4:75242600-75244000	Weak transcription	Osteobl	bone
15	chr4:75242600-75244600	Genic enhancers	NHEK	skin
16	chr4:75242600-75252600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:75242800-75244400	Genic enhancers	A549	lung
18	chr4:75242800-75244800	Enhancers	HMEC	breast

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