Variant report

Variant	rs72952852
Chromosome Location	chr3:119877787-119877788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119872156..119875063-chr3:119876468..119880752,4	MCF-7	breast:
2	chr3:119811552..119816110-chr3:119876873..119880386,8	MCF-7	breast:
3	chr15:96452853..96454380-chr3:119876563..119879196,2	MCF-7	breast:
4	chr3:119865137..119868181-chr3:119877404..119880372,3	MCF-7	breast:
5	chr3:119870692..119873578-chr3:119876530..119878351,2	MCF-7	breast:
6	chr3:119877444..119878944-chr3:119896183..119899107,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242622	Chromatin interaction
ENSG00000082701	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57147159	1.00[AMR][1000 genomes]
rs60282320	1.00[AMR][1000 genomes]
rs6802912	1.00[AMR][1000 genomes]
rs72952818	1.00[AMR][1000 genomes]
rs72952850	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952863	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952877	1.00[AMR][1000 genomes]
rs72952884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954705	1.00[AMR][1000 genomes]
rs72954727	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954733	1.00[AMR][1000 genomes]
rs72954750	1.00[AMR][1000 genomes]
rs72954753	1.00[AMR][1000 genomes]
rs72954777	1.00[AMR][1000 genomes]
rs72954784	1.00[AMR][1000 genomes]
rs72969139	1.00[AMR][1000 genomes]
rs72969151	1.00[AMR][1000 genomes]
rs72969159	1.00[AMR][1000 genomes]
rs72969184	1.00[AMR][1000 genomes]
rs72969194	1.00[AMR][1000 genomes]
rs72971030	1.00[AMR][1000 genomes]
rs72971057	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv829697	chr3:119802856-119918435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
5	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv3967	chr3:119857708-119903115	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv1013788	chr3:119866722-119912297	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119872400-119877800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:119872400-119878800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:119875200-119877800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:119875200-119896000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:119876000-119881400	Enhancers	Placenta	Placenta
6	chr3:119876400-119877800	Weak transcription	NHEK	skin
7	chr3:119876400-119878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:119876400-119878800	Weak transcription	A549	lung
9	chr3:119876800-119877800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:119876800-119878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:119877000-119878800	Enhancers	Hela-S3	cervix
12	chr3:119877200-119879600	Enhancers	Fetal Intestine Small	intestine
13	chr3:119877400-119878400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:119877400-119878800	Weak transcription	Fetal Intestine Large	intestine
15	chr3:119877400-119879200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:119877600-119880000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:119877600-119881600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:119877600-119881600	Enhancers	HMEC	breast
19	chr3:119877600-119881600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr3:119877600-119882600	Enhancers	Primary neutrophils fromperipheralblood	blood

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