Variant report

Variant	rs7669104
Chromosome Location	chr4:75234202-75234203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75023271..75025890-chr4:75232510..75234207,2	K562	blood:
2	chr4:75192372..75204703-chr4:75227413..75239566,26	K562	blood:
3	chr4:75231359..75240256-chr4:75240969..75248990,20	K562	blood:
4	chr4:75189693..75192750-chr4:75229705..75235376,6	K562	blood:
5	chr4:75232212..75234916-chr4:75408400..75410954,2	K562	blood:
6	chr4:75233383..75235100-chr4:75261876..75263517,2	K562	blood:
7	chr4:75234009..75245794-chr4:75391033..75405138,38	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269559	Chromatin interaction
ENSG00000124882	Chromatin interaction
ENSG00000265720	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10518126	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1246593	1.00[TSI][hapmap]
rs1246595	1.00[TSI][hapmap]
rs1460015	0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs572987	1.00[TSI][hapmap]
rs57346142	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57839099	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57933408	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs579866	1.00[TSI][hapmap]
rs59107719	0.81[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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60972393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61476105	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61549491	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61597562	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61684000	0.91[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	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6837909	0.84[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859325	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859333	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859334	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72859338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72859361	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859363	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72859366	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs734222	1.00[TSI][hapmap]
rs7668475	1.00[EUR][1000 genomes];0.84[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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];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	chr4:75230600-75234600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:75231400-75236600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:75231600-75234600	Enhancers	Fetal Heart	heart
4	chr4:75231800-75234600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr4:75231800-75238000	Weak transcription	Pancreas	Pancrea
6	chr4:75231800-75239600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:75231800-75240000	Weak transcription	Esophagus	oesophagus
8	chr4:75232600-75235200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:75232800-75234800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:75232800-75235400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:75232800-75235400	Active TSS	A549	lung
12	chr4:75233400-75235200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:75233600-75235400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:75233600-75239600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr4:75234000-75234400	Active TSS	K562	blood
16	chr4:75234000-75234600	Enhancers	Fetal Intestine Small	intestine
17	chr4:75234000-75239800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:75234200-75234400	Weak transcription	HMEC	breast
19	chr4:75234200-75234800	Enhancers	Fetal Intestine Large	intestine
20	chr4:75234200-75235600	Genic enhancers	NHEK	skin

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