Variant report

Variant	rs60972393
Chromosome Location	chr4:75236062-75236063
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:3749102..3749947-chr4:75235565..75236417,2	HCT-116	colon:
2	chr4:75192372..75204703-chr4:75227413..75239566,26	K562	blood:
3	chr4:75231359..75240256-chr4:75240969..75248990,20	K562	blood:
4	chr4:75234890..75237055-chr4:75396649..75399248,2	K562	blood:
5	chr4:75235822..75238549-chr4:75548753..75550364,2	MCF-7	breast:
6	chr4:75234415..75236642-chr4:75330088..75332288,2	K562	blood:
7	chr4:75234462..75244182-chr4:75405315..75413749,23	MCF-7	breast:
8	chr4:75235446..75238330-chr4:75240663..75242435,3	MCF-7	breast:
9	chr4:75234266..75236850-chr4:75240881..75243541,4	MCF-7	breast:
10	chr4:75234009..75245794-chr4:75391033..75405138,38	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265720	Chromatin interaction
ENSG00000074356	Chromatin interaction
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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1460015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4694680	0.80[AFR][1000 genomes]
rs57346142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57839099	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57933408	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59107719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59690065	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60611827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61476105	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61549491	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61597562	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61684000	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6831666	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6836436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6837909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859325	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859327	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859333	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859334	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859338	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859361	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859363	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859366	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7668475	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7669104	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669542	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7669666	1.00[EUR][1000 genomes]
rs7674887	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7675690	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7690224	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7690629	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7691008	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7696072	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7697009	1.00[EUR][1000 genomes];0.87[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75231400-75236600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:75231800-75238000	Weak transcription	Pancreas	Pancrea
3	chr4:75231800-75239600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:75231800-75240000	Weak transcription	Esophagus	oesophagus
5	chr4:75233600-75239600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:75234000-75239800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:75234600-75236400	Weak transcription	HMEC	breast
8	chr4:75234600-75236600	Weak transcription	Fetal Heart	heart
9	chr4:75234600-75239600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:75234600-75240000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:75234800-75236600	Weak transcription	Fetal Intestine Large	intestine
12	chr4:75235200-75236400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:75235200-75236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:75235200-75240000	Weak transcription	Fetal Intestine Small	intestine
15	chr4:75235400-75236800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:75235400-75237400	Transcr. at gene 5' and 3'	A549	lung
17	chr4:75235600-75238200	Enhancers	K562	blood
18	chr4:75235800-75236600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:75236000-75236400	Genic enhancers	NHEK	skin
20	chr4:75236000-75237400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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