Variant report

Variant	rs72954705
Chromosome Location	chr3:119911171-119911172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119812584..119816190-chr3:119909415..119914379,6	MCF-7	breast:
2	chr3:119811331..119815530-chr3:119909646..119912126,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082701	Chromatin interaction
ENSG00000242622	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57147159	1.00[AMR][1000 genomes]
rs60282320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6802912	1.00[AMR][1000 genomes]
rs72952818	1.00[AMR][1000 genomes]
rs72952850	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952852	1.00[AMR][1000 genomes]
rs72952863	1.00[AMR][1000 genomes]
rs72952877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952884	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954727	1.00[AMR][1000 genomes]
rs72954733	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954750	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954753	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954777	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954784	0.88[AFR][1000 genomes];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	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
7	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv1008362	chr3:119901774-119919670	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119892400-119914200	Weak transcription	Fetal Brain Female	brain
2	chr3:119896400-119921400	Weak transcription	Ovary	ovary
3	chr3:119897000-119913200	Weak transcription	Fetal Stomach	stomach
4	chr3:119897000-119921400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:119897200-119914800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:119900800-119915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:119910600-119911800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:119910600-119911800	Enhancers	HSMMtube	muscle
9	chr3:119910800-119911800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:119910800-119912000	Enhancers	HSMM	muscle
11	chr3:119911000-119911800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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